Autoimmune Lymphoproliferative Syndrome: Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.Lymphoproliferative Disorders: Disorders characterized by proliferation of lymphoid tissue, general or unspecified.Antigens, CD95: A tumor necrosis factor receptor subtype found in a variety of tissues and on activated LYMPHOCYTES. It has specificity for FAS LIGAND and plays a role in regulation of peripheral immune responses and APOPTOSIS. Multiple isoforms of the protein exist due to multiple ALTERNATIVE SPLICING. The activated receptor signals via a conserved death domain that associates with specific TNF RECEPTOR-ASSOCIATED FACTORS in the CYTOPLASM.Autoimmune Diseases: Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.Syndrome: A characteristic symptom complex.Caspase 10: A long pro-domain caspase that contains a death effector domain in its pro-domain region. Activation of this enzyme can occur via the interaction of its N-terminal death effector domain with DEATH DOMAIN RECEPTOR SIGNALING ADAPTOR PROTEINS. Caspase 10 plays a role in APOPTOSIS by cleaving and activating EFFECTOR CASPASES. Several isoforms of this protein exist due to multiple alternative splicing of its MESSENGER RNA.Splenomegaly: Enlargement of the spleen.Anemia, Hemolytic, Autoimmune: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.Fas Ligand Protein: A transmembrane protein belonging to the tumor necrosis factor superfamily that was originally discovered on cells of the lymphoid-myeloid lineage, including activated T-LYMPHOCYTES and NATURAL KILLER CELLS. It plays an important role in immune homeostasis and cell-mediated toxicity by binding to the FAS RECEPTOR and triggering APOPTOSIS.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Lymphatic Diseases: Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.T-Lymphocytes: Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Sulfadoxine: A long acting sulfonamide that is used, usually in combination with other drugs, for respiratory, urinary tract, and malarial infections.Pyrimethamine: One of the FOLIC ACID ANTAGONISTS that is used as an antimalarial or with a sulfonamide to treat toxoplasmosis.Copyright: It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)Sjogren's Syndrome: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Hypophosphatasia: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)Kleine-Levin Syndrome: A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)De Lange Syndrome: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)Myasthenia Gravis, Neonatal: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)Hypersomnolence, Idiopathic: A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129)Addison Disease: An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.Lymphocytes: White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.Lymphocyte Activation: Morphologic alteration of small B LYMPHOCYTES or T LYMPHOCYTES in culture into large blast-like cells able to synthesize DNA and RNA and to divide mitotically. It is induced by INTERLEUKINS; MITOGENS such as PHYTOHEMAGGLUTININS, and by specific ANTIGENS. It may also occur in vivo as in GRAFT REJECTION.Lymphocyte Count: The number of LYMPHOCYTES per unit volume of BLOOD.Lymphocyte Subsets: A classification of lymphocytes based on structurally or functionally different populations of cells.Valproic Acid: A fatty acid with anticonvulsant properties used in the treatment of epilepsy. The mechanisms of its therapeutic actions are not well understood. It may act by increasing GAMMA-AMINOBUTYRIC ACID levels in the brain or by altering the properties of voltage dependent sodium channels.Histone Deacetylase Inhibitors: Compounds that inhibit HISTONE DEACETYLASES. This class of drugs may influence gene expression by increasing the level of acetylated HISTONES in specific CHROMATIN domains.Anticonvulsants: Drugs used to prevent SEIZURES or reduce their severity.Antimanic Agents: Agents that are used to treat bipolar disorders or mania associated with other affective disorders.Epilepsy: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)Hydroxamic Acids: A class of weak acids with the general formula R-CONHOH.Butyrates: Derivatives of BUTYRIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxypropane structure.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Giant Lymph Node Hyperplasia: Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A.Edema: Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.Licensure: The legal authority or formal permission from authorities to carry on certain activities which by law or regulation require such permission. It may be applied to licensure of institutions as well as individuals.Moral Obligations: Duties that are based in ETHICS, rather than in law.Congresses as Topic: Conferences, conventions or formal meetings usually attended by delegates representing a special field of interest.T-Box Domain Proteins: Proteins containing a region of conserved sequence, about 200 amino acids long, which encodes a particular sequence specific DNA binding domain (the T-box domain). These proteins are transcription factors that control developmental pathways. The prototype of this family is the mouse Brachyury (or T) gene product.Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Autoimmunity: Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES.Antibodies, Antinuclear: Autoantibodies directed against various nuclear antigens including DNA, RNA, histones, acidic nuclear proteins, or complexes of these molecular elements. Antinuclear antibodies are found in systemic autoimmune diseases including systemic lupus erythematosus, Sjogren's syndrome, scleroderma, polymyositis, and mixed connective tissue disease.Immunocompetence: The ability of lymphoid cells to mount a humoral or cellular immune response when challenged by antigen.Lymphadenitis: Inflammation of the lymph nodes.Epstein-Barr Virus Infections: Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).Immunocompromised Host: A human or animal whose immunologic mechanism is deficient because of an immunodeficiency disorder or other disease or as the result of the administration of immunosuppressive drugs or radiation.Herpesvirus 4, Human: The type species of LYMPHOCRYPTOVIRUS, subfamily GAMMAHERPESVIRINAE, infecting B-cells in humans. It is thought to be the causative agent of INFECTIOUS MONONUCLEOSIS and is strongly associated with oral hairy leukoplakia (LEUKOPLAKIA, HAIRY;), BURKITT LYMPHOMA; and other malignancies.Organ Transplantation: Transference of an organ between individuals of the same species or between individuals of different species.

Fas stimulation of T lymphocytes promotes rapid intercellular exchange of death signals via membrane nanotubes. (1/30)

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Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). (2/30)

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Primary immunodeficiencies (PIDs) presenting with cytopenias. (3/30)

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Childhood polyarteritis nodosa in autoimmune lymphoproliferative syndrome. (4/30)

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Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. (5/30)

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Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. (6/30)

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ALPS-ten lessons from an international workshop on a genetic disease of apoptosis. (7/30)

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Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. (8/30)

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Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, and autoimmune cytopenias. In 1995, defective lymphocyte apoptosis secondary to mutations in the FAS gene was identified as a molecular basis for ALPS.
The purpose of the protocol is to allow for patients, and relatives of patients, who may have the newly described autoimmune lymphoproliferative syndrome, to be evaluated at the NIH Clinical Center. This evaluation will include blood and relevant tissue studies along with long-term clinical evaluations to define the biology, inheritance,clinical spectrum, and natural history of this syndrome. The aim of the research is to understand mechanisms involved in the development of expanded numbers of what is typically a rare population of immune cells (CD4-8-/TCRalpha/beta+ T cells, otherwise referred to as double negative T cells), and how these relate to the development of expanded numbers of immune cells and autoimmune (self against self) responses in patients with ALPS.. In some cases, we may proivide treatment related to ALPS. These treatments are consistent with standard medical practice.. Participants with ALPS will be invited to visit the NIH once a year or more frequently when clinically ...
This study will evaluate the safety and effectiveness of an antibiotic called Fansidar on autoimmune lymphoproliferative syndrome (ALPS). Patients with ALPS have enlarged lymph glands, spleen and/or liver, abnormal blood cell counts and overactive immune function. Current treatments are aimed at suppressing the immune system and improving symptoms, such as anemia (low red blood cell count) and low white blood cell and platelet counts. These treatments, however, are only partially effective and may have complications. Fansidar is a combination of two drugs, sulfadoxine and pyrimethamine, that is used to treat or prevent parasitic infections such as malaria. Recently a child with ALPS who was treated with Fansidar for a different illness had a marked shrinkage of the lymph organs. This study will examine whether Fansidar can shrink the lymph glands or spleen in patients with ALPS.. Patients with ALPS between the ages of 4 and 70 years who have had lymph gland enlargement for at least 1 year and ...
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS description, symptoms and related genes. Get the complete information in our medical search engine for p
Langan RC, Gill F, Raiji MT, Mullinax JE, Pittaluga S, Pandalai P, Davis J, Perkins K, Avital I, Rudloff U. Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves clothing? Pancreas. 2013 Mar; 42(2):363-6 ...
Teachey DT, Manno CS, Axsom KM, et al: Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood 2005;105:2443-2448. Bader-Meunier B, Rieux-Laucat F, Croisille L, et al: Dyserythropoiesis associated with a fasdeficient condition in childhood. Br J Haematol 2000;108:300-304. Pensati L, Costanzo A, Ianni A, et al: Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. Gastroenterology 1997;113: 1384-1389. Cell 1997;89:1067-1076. Stanger B, Leder P, Lee T, Kim E, Seed B: RIP: A novel protein containing a death domain that interacts with fas/APO-1(CD95) in yeast and causes cell death. Cell 1995;81:513-523. Chu K, Niu X, Williams LT: A Fas-associated protein factor, FAF1, potentiates Fas-mediated apoptosis. Proc Natl Acad Sci USA 1995;92:11894-11898. Barnhart BC, Alappat EC, Peter ME: The CD95 type I/type II model. Semin Immunol 2003;15: 185-193. Siegel RM, Muppidi JR, Sarker M, ...
Treatment is most commonly directed at autoimmune disease and may be needed to treat bulky lymphoproliferation. First line therapies include corticosteroids (very active but toxic with chronic use), and IVIgG, which are not as effective as in other immune cytopenia syndromes. Second line therapies include: mycophenolate mofetil (cellcept)[15] which inactivates inosine monophosphate, most studied in clinical trials with responses varying (relapse, resolution, partial response). It does not affect lymphoproliferation or reduce DNTs, with no drug-drug interactions. This treatment is commonly used agent in patients who require chronic treatment based on tolerance and efficacy. It may cause hypogammaglobulinemia (transient) requiring IVIgG replacement. Sirolimus (rapamycin, rapamune) which is a mTOR (mammalian target of rapamycin) inhibitor[16] can be active in most patients and can in some cases lead to complete or near-complete resolution of autoimmune disease (,90%)[17][18] With this treatment ...
Pain management information for pain medicine healthcare professionals in treating and caring for their patients. Clinical Pain Advisor offers news, case studies and more.
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Covered on Genetics Home Reference: autoimmune lymphoproliferative syndromebreast cancerFrom NCBI Gene: Caspase-8 deficiencyHepatocellular carcinomaFamilial cancer of breastLung cancerFrom UniProt: Caspase-8 deficiency (CASP8D): Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. [MIM:607271] From NCBI Gene: This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of ...
RAS-associated autoimmune leukoproliferative disorder (RALD) is a rare genetic disorder of the immune system. RALD is characterized by lymphadenopathy, splenomegaly, autoimmunity, and elevation in granulocytes and monocytes. It shares many features with autoimmune lymphoproliferative syndrome and is caused by somatic mutations in NRAS or KRAS. This was first described by investigators João Oliveira and Michael Lenardo from the National Institutes of Health. Clinically, RALD is characterized by splenomegaly, a relatively mild degree of peripheral lymphadenopathy, and autoimmunity. The autoimmune phenotype can present in childhood or adulthood and primarily includes autoimmune hemolytic anemia, ITP, and neutropenia. Some patients have a history of recurrent respiratory tract infections. It is unclear if increased risk for malignancy is part of RALD. Importantly, however, the clinical and laboratory phenotype resembles juvenile myelomonocytic leukemia. The high fatality rate of this childhood ...
We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein–Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency–associated genes (FAS-ligand (|i|FASL|/i|) gene (p.G167R); perforin-1 (|i|PRF1|/i| (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (|i|BLM|/i|) gene and the Moesin (|i|MSN|/i|) (p.A122T) gene). The heterozygous mutation in the |i|FASL|/i| gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient’s immunodepression is discussed. This observation strengthens the role of |i|FASL|/i| gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people
A fundamental biological question that remains largely unresolved concerns the mechanism by which binding of ligands to receptors on the cell surface causes transmission of a signal through the plasma membrane. One appealing explanation has been that ligand binding brings receptors together into multimeric complexes. Three reports describe cases in which the opposite approach is taken, and the receptors are bound and lie in wait for the ligand. Siegel et al. and Chan et al. have examined how the Fas and tumor necrosis factor (TNF) receptors signal. They define a protein interaction domain in these receptors that mediates assembly of the receptors into complexes in the absence of ligand. Such association is shown to be necessary for ligand binding and subsequent signaling. The results also explain how abnormal forms of Fas can dominantly prevent Fas-induced signaling in the human disease known as autoimmune lymphoproliferative syndrome. When bound to their cognate receptors, interferons (IFNs) ...
Although ALPS is frequently caused by mutations in known genes, such as FAS, FASLG or CASP10, in 20-30% of cases the defect is still unknown. It is highly likely that defects in or overexpression of regulators of these genes such as miR-146a22 could result in an ALPS-like phenotype and account for a not yet defined percentage of ALPS-U cases. In the present study we identified an IL12RB1 mutation and the IL12 signaling pathway as such an alternative cause of an ALPS-like phenotype through regulation of FasL expression. Previously it was shown that activation of T and NK cells by IL12 results in upregulation of FasL.23-26,28,42 For instance, Yu et al. showed that dendritic cell-derived IL12 is involved in upregulation of FasL on NK cells leading to cell death.25 Moreover, in the absence of antigen, IL12 induces apoptosis of T cells via upregulation of FasL which can be blocked by anti-FasL antibodies.26 In line with this, we found that primary human T cells deficient in FasL expression were ...
Background: Mikuliczs disease (MD) has been considered as one manifestation of Sjögrens syndrome (SS). Recently, it has also been considered as an IgG4-related disorder.. Objective: To determine the differences between IgG4-related disorders including MD and SS.. Methods: A study was undertaken to investigate patients with MD and IgG4-related disorders registered in Japan and to set up provisional criteria for the new clinical entity IgG4-positive multiorgan lymphoproliferative syndrome (IgG4+MOLPS). The preliminary diagnostic criteria include raised serum levels of IgG4 (,135 mg/dl) and infiltration of IgG4+ plasma cells in the tissue (IgG4+/IgG+ plasma cells ,50%) with fibrosis or sclerosis. The clinical features, laboratory data and pathologies of 64 patients with IgG4+MOLPS and 31 patients with typical SS were compared.. Results: The incidence of xerostomia, xerophthalmia and arthralgia, rheumatoid factor and antinuclear, antiSS-A/Ro and antiSS-B/La antibodies was significantly lower in ...
Consistent with the finding that Fas deficiency might also alter homeostasis of conventional immune cell lineages independently of Eomes, we found that the autoimmune manifestations of ALPS were not affected by the T cell-specific deletion of Eomes (Fig. 2E, 2F). This result was not unexpected because independent lines of evidence have uncoupled DN T cell accumulation from the pathogenic autoantibody production of ALPS (3, 4, 9). Whereas B cell- or DC-specific deficiency of Fas is not sufficient to drive DN T cell expansion, either is sufficient to recapitulate the autoantibody production of ALPS (3, 4). CD4+ T cells, DCs, and B cells are still present and Fas-deficient in lpr/lpr, Eomes F/F, Cd4:Cre+ mice, providing a sufficient cellular network for the elaboration of pathogenic autoantibodies. Taken together, these data suggest that the Eomes-dependent DN T cell population is responsible for the lymphoproliferative phenotype but does not appear to be required for the humoral autoimmunity ...
Pachlopnik Schmid, J; Canioni, D; Moshous, D; Touzot, F; Mahlaoui, N; Hauck, F; Kanegane, H; Lopez-Granados, E; Mejstrikova, E; Pellier, I; Galicier, L; Galambrun, C; Barlogis, V; Bordigoni, P; Fourmaintraux, A; Hamidou, M; Dabadie, A; Le Deist, F; Haerynck, F; Ouachée-Chardin, M; Rohrlich, P; Stephan, J L; Lenoir, C; Rigaud, S; Lambert, N; Milili, M; Schiff, C; Chapel, H; Picard, C; de Saint Basile, G; Blanche, S; Fischer, A; Latour, S (2011). Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood, 117(5):1522-1529.. Liu, L; Okada, S; Kong, X F; Kreins, A Y; Cypowyj, S; Abhyankar, A; Toubiana, J; Itan, Y; Audry, M; Nitschke, P; Masson, C; Toth, B; Flatot, J; Migaud, M; Chrabieh, M; Kochetkov, T; Bolze, A; Borghesi, A; Toulon, A; Hiller, J; Eyerich, S; Eyerich, K; Gulácsy, V; Chernyshova, L; Chernyshov, V; Bondarenko, A; Grimaldo, R M C; Blancas-Galicia, L; Beas, I M M; Roesler, J; ...
Complete information for FASLG gene (Protein Coding), Fas Ligand, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for FASLG gene (Protein Coding), Fas Ligand, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
rs763110, also known as -844C,T, is a SNP in the FAS ligand FASLG gene. A meta-analysis of 19 published studies, including 11,105 cancer cases and 11,372 controls, concluded that the rs763110(C;T) and (T;T) genotypes were associated with a significantly reduced (about 0.80x) cancer risk of all cancer types.[PMID 19337311 ...
SERVIOLI, Luisa et al. Blood cytopenias in systemic autoimmune conditions. Arch. Med Int [online]. 2014, vol.36, n. 3, pp.101-109. ISSN 0250-3816.. The hematologic cytopenias are a frequent and potentially dangerous finding in the Systemic Autoimmune Diseases. It may have different etiologies, and for that reason it is important a systematic approach to ensure the correct diagnosis and treatment. In this article, the frequency, etiology, diagnostic approach and treatment of the hematologic cytopenias are reviewed.. Keywords : autoimmune cytopenias; hematologic cytopenias in autoimmune diseases; inflammatory anemia; autoimmune leukopenia; neutropenia in autoimmune diseases. ...
ALP - MedHelps ALP Center for Information, Symptoms, Resources, Treatments and Tools for ALP. Find ALP information, treatments for ALP and ALP symptoms.
Lymphom: Symptome ❗ Befunde ❗ Diagnose ❗ Behandlung ❗ Komplikationen ❗ Ursachen ❗ Epidemiologie ❗ Inzidenz ❗ Prognose ❗ Mehr auf Symptoma.com Der Terminus Lymphom bezieht sich auf eine lymphoproliferative Erkrankung, die mit einer unkontrollierten Vermehrung verschiedener Lymphozytenpopulationen bzw. deren Vorgängerzellen einhergeht.…
Status: Recruiting. Condition Summary: Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Hypophosphatasia; Kabuki Syndrome; Bohring-Opitz Syndrome; Narcolepsy Without Cataplexy; Narcolepsy-cataplexy; Hypersomnolence Disorder; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Idiopathic Hypersomnia; Kleine-Levin Syndrome; Kawasaki Disease; Leiomyosarcoma; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Addison Disease; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Williams Syndrome; Lyme Disease; Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil ...
Human X-linked inhibitor of apoptosis (XIAP) protein belongs to a family of apoptotic suppressor proteins that share a conserved motif, the baculovirus IAP repeat (BIR). The BIR motif is necessary for antiapoptotic function. XIAP plays a variety of other functional roles, such as also modulation of inflammatory signaling and immunity, mitogenic kinase signaling, cell proliferation, and copper homeostasis. XIAP acts as a caspase inhibitor by binding to the active site of caspase 3 and 7; it also inactivates caspase 9 by preventing it from forming active homodimers. Mutations in the XIAP gene are associated with X-linked lymphoproliferative syndrome. XIAP is also known as baculoviral IAP repeat-containing 4 (BIRC4), inhibitor of apoptosis protein 3 (IAP3), hIAP3, IAP-like protein, API3, ILP1, MIHA, and XLP2.. ...
Human X-linked inhibitor of apoptosis (XIAP) protein belongs to a family of apoptotic suppressor proteins that share a conserved motif, the baculovirus IAP repeat (BIR). The BIR motif is necessary for antiapoptotic function. XIAP plays a variety of other functional roles, such as also modulation of inflammatory signaling and immunity, mitogenic kinase signaling, cell proliferation, and copper homeostasis. XIAP acts as a caspase inhibitor by binding to the active site of caspase 3 and 7; it also inactivates caspase 9 by preventing it from forming active homodimers. Mutations in the XIAP gene are associated with X-linked lymphoproliferative syndrome. XIAP is also known as baculoviral IAP repeat-containing 4 (BIRC4), inhibitor of apoptosis protein 3 (IAP3), hIAP3, IAP-like protein, API3, ILP1, MIHA, and XLP2.. ...
LOS ANGELES - For Jacob Martinez, blood and platelet transfusions are part of daily life. So is confinement to a tiny room sealed off from the contaminates of the outside world. Jacob, 5, of Pico Rivera, has been in his clean room for three months, since he received a bone marrow transplant in October. But that transplant failed, and now a second is needed to make it possible for the boy to produce his own blood. "This is a hard battle," Jacobs father, Peter Martinez, said. "We just stay with him and love him, and make him as comfortable and happy as we can." Jacob suffers from X-linked Lymphoproliferative Syndrome, or XLP, an immune system deficiency. Diagnosed at just a month old, he has been in and out of hospitals his entire life. The disease makes him highly susceptible to infections and could make even mild illness deadly. It affects only boys, and is passed down by female carriers in a family, who display no symptoms. If left untreated, Jacobs life expectancy would be about 10 years. ...
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CiteWeb id: 20050000212. CiteWeb score: 2801. DOI: 10.1016/j.immuni.2005.01.016. Regulatory T cell-mediated dominant tolerance has been demonstrated to play an important role in the prevention of autoimmunity. Here, we present data arguing that the forkhead transcription factor Foxp3 acts as the regulatory T cell lineage specification factor and mediator of the genetic mechanism of dominant tolerance. We show that expression of Foxp3 is highly restricted to the subset αβ of T cells and, irrespective of CD25 expression, correlates with suppressor activity. Induction of Foxp3 expression in nonregulatory T cells does not occur during pathogen-driven immune responses, and Foxp3 deficiency does not impact the functional responses of nonregulatory T cells. Furthermore, T cell-specific ablation of Foxp3 is sufficient to induce the identical early onset lymphoproliferative syndrome observed in Foxp3-deficient mice. Analysis of Foxp3 expression during thymic development suggests that this mechanism is ...
In this study, we have demonstrated that xenoantigen-activated DNT cells can eliminate syngeneic B and T cells ex vivo, and adoptive transfer of DNT cells can significantly prolong xenograft survival. We have identified a different mechanism of xenoreactive DNT cell-mediated immune regulation that is dependent on perforin/granzymes, but independent of the Fas-FasL interaction (18, 24). This finding is consistent with the high expression level of granzymes in xenoreactive DNT cells compared with those in CD8+ T cells. Taken together, our data indicate that DNT cells can mediate immune regulation in xenotransplantation by targeting B and T cells.. Our finding that activation of DNT cells could be inhibited by Abs against either rat MHC I or II molecules in the presence of IL-2, implying that the interaction between TCR on DNT cells and xeno-MHC molecules is Ag nonspecific. This notion is supported by crystallographic data showing that CD8+ T cell xenoreactivity is not based on a molecular mimicry ...
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In 2012, we co-founded the International Workshop on Combinatorial Testing, focused on theory and application of CT. Papers from previous workshops are listed below. IWCT 2019. ...
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inproceedings{ARCH15:Benchmark_Quadrotor_Attitude_Control, author = {A. E. C. Da Cunha}, title = {Benchmark: Quadrotor Attitude Control}, booktitle = {ARCH14-15. 1st and 2nd International Workshop on Applied veRification for Continuous and Hybrid Systems}, editor = {Goran Frehse and Matthias Althoff}, series = {EPiC Series in Computing}, volume = {34}, pages = {57--72}, year = {2015}, publisher = {EasyChair}, bibsource = {EasyChair, https://easychair.org}, issn = {2398-7340}, url = {https://easychair.org/publications/paper/mwnd}, doi = {10.29007/dc68 ...
M. P. Atkinson, Dmitriev, M. A., Hamilton, C., and Printezis, T., "Scalable and Recoverable Implementation of Object Evolution for the PJama1 Platform ", in Persistent Object Systems: Design, Implementation, and Use 9th International Workshop, POS-9 Lillehammer, Norway, September 6-8, 2000 Revised Papers, vol. 2135, G. N. C., Kirby, A. D., and Sjøberg, D. I. K., Eds. Springer, 2001, pp. 292-314,. ...
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ALPS 2017: reflection on a decade. In 2017 we had the11th ALPS HPB meeting and the highest attendance to date. Traditionally, a trainee writes the report but on this occasion I thought it might be helpful to reflect on the origin, development and future of the meeting. Like many of the best ideas, ALPS came out of a
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Huang, K., Zhou, Z., Han, Y., Li, G., Wang, J. (2004). An Algorithm for Calculating Process Similarity to Cluster Open-Source Process Designs. Proceedings of the International Workshop on Information Grid and Knowledge Grid (IGKG 2004) as part of the Grid and Cooperative Computing Workshops (GCC Workshops 2004), Wuhan, China, October 21-24. Pages: 107-114 ...
Pitt, J., & Hart, E. (2017). For Flux Sake: The Confluence of Socially- and Biologically-Inspired Computing for Engineering Change in Open Systems. In 2017 IEEE 2nd International Workshops on Foundations and Applications of Self* Systems (FAS*W),doi:10.1109/FAS-W.2017.119. ...
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inproceedings{ARCH17:ARCH_COMP17_Category_Report_Preliminary, author = {Adel Dokhanchi and Shakiba Yaghoubi and Bardh Hoxha and Georgios Fainekos}, title = {ARCH-COMP17 Category Report: Preliminary Results on the Falsification Benchmarks}, booktitle = {ARCH17. 4th International Workshop on Applied Verification of Continuous and Hybrid Systems}, editor = {Goran Frehse and Matthias Althoff}, series = {EPiC Series in Computing}, volume = {48}, pages = {170--174}, year = {2017}, publisher = {EasyChair}, bibsource = {EasyChair, https://easychair.org}, issn = {2398-7340}, url = {https://easychair.org/publications/paper/HxQ}, doi = {10.29007/wmf5 ...
Collection of selected, peer reviewed papers from the International Workshop on Materials and Mechanical Engineering (WMME 2013), November 20-22, 2013, Xianning, China. |br /|The 57 papers are grouped as follows: |br /|I. Research and Processing of Materials, |br /|II. Mechanical Science and Engineering
The CLIVAR Scientific Steering Group (SSG) has endorsed the "International Workshop on Tropical-subtropical Weather, Climate and Oceans", which will be organised by Sun Yat - sen University of China, on November 18-20, 2017 in Guangzhou, China.The tropical and subtropical regions are important areas where severe weather and climate events and oceanic variations frequently occur. There have been significant research progresses in tropical-subtropical weather and forecasting, climate variability and climate change predictability, and air-sea interactions and oceanic dynamics in recent years. It is now a good time for scientists from various disciplines of related fields to meet and share their results, and to discuss about the future directions of studies. Specific objectives. The main goal of this workshop is to provide a platform for researchers from various disciplines to discuss the recent advances, establish collaborations, and identify challenges toward better understanding of the ...
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January 2006). "HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 ... Protective effects: HLA-B44 appears to be protective against autoimmune lymphoproliferative syndrome in patients with C95 ...
... is a syndrome secondary to autoimmune and other lymphoproliferative disorders. Symptoms include fever, cough, and shortness of ... Patients presenting with no symptoms, and not affected by the syndrome may not require treatment. Corticosteroids have been ...
Notably, the Fas death domain can have mutations that lead to Autoimmune lymphoproliferative syndrome, lung cancer, and ...
In the early 1990s, Straus and colleagues discovered autoimmune lymphoproliferative syndrome (ALPS), a rare genetic disorder in ... "A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease.", Journal of Clinical Investigation, 90: 334 ... and for his discovery of the autoimmune lymphoproliferative syndrome genetic disorder. He headed the Laboratory of Clinical ... International Chronic Fatigue Syndrome Study Group (1994), "The Chronic Fatigue Syndrome: A Comprehensive Approach to Its ...
... not-for-profit focusing on generic drug repurposing for the rare diseases autoimmune lymphoproliferative syndrome and familial ... Originally developed as an anti-Parkinsonian agent, it has found application in the treatment of both Restless Legs Syndrome ...
... syntaxin 11 deficiency X-linked lymphoproliferative syndrome Syndromes with autoimmunity: (a) Autoimmune lymphoproliferative ... ataxia-like syndrome, Nijmegen breakage syndrome, Bloom syndrome DiGeorge syndrome (when associated with thymic defects) ... Hyper-IgD syndrome (HIDS) CIAS1-related diseases: Muckle-Wells syndrome Familial cold autoinflammatory syndrome Neonatal onset ... Schimke syndrome Hermansky-Pudlak syndrome type 2 Hyper-IgE syndrome Chronic mucocutaneous candidiasis Hepatic venoocclusive ...
GeneReviews/NCBI/NIH/UW entry on Autoimmune Lymphoproliferative Syndrome This article incorporates text from the United States ...
Examples of autosomal dominant cancer syndromes are autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), Beckwith- ... Lynch syndrome), Howel-Evans syndrome of eosophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, ... Birt-Hogg-Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma ... Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is an autosomal dominant cancer syndrome in which ...
Capillary malformation-AV malformation syndrome Autoimmune lymphoproliferative syndrome Cardiofaciocutaneous syndrome ... Noonan-like Legius syndrome, Noonan-like Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan- ... The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that ... RASopathies Network USA, founded 2010 rasopathiesnet.org, accessed February 27, 2014 About RAS Pathway Syndromes RASopathy ...
... a multinational corporation based in Japan Autoimmune lymphoproliferative syndrome ALPS, Advanced Liquid Processing System made ...
... autoimmune lymphoproliferative syndrome - autoradiography - autosomal dominant - autosome - avidin - BAC - back mutation - ... Fragile X syndrome - frameshift mutation - fusion protein - gel electrophoresis - gel shift - gel shift assay - gene - gene ... syndrome - T7 RNA polymerase - taq polymerase - TATA box - technology transfer - template - termination codon - terminator - ... Alagille syndrome - alkaline lysis - allele - amino acids - amino terminus - amp resistance - amplification - amplicon - anchor ...
... (ALPS), also known as Canale-Smith syndrome,[1] is a form of lymphoproliferative ... 2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: A multi-institutional study". Blood. 115 ( ... "Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)". Blood. 108 (6): 1965- ...
... post-transplant lymphoproliferative disorder autoimmune lymphoproliferative syndrome (ALPS) "Lymphoid interstitial pneumonia" ... Some children with autoimmune lymphoproliferative disorders are heterozygous for a mutation in the gene that codes for the Fas ... Chédiak-Higashi syndrome, Wiskott-Aldrich syndrome (an X-linked recessive disorder), and ataxia telangiectasia. Even though ... which often leads to lymphoproliferative disorders. There are many lymphoproliferative disorders that are associated with organ ...
2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... of children with Evans syndrome have CD4-/CD8- T cells which is a strong predictor for having autoimmune lymphoproliferative ... Evans syndrome is an autoimmune disease in which an individual's antibodies attack their own red blood cells and platelets. ... "Evan's syndrome". GPnotebook. Cai JR, Yu QZ, Zhang FQ (1989). "[Autoimmune hemolytic anemia: clinical analysis of 100 cases]". ...
It shares many features with autoimmune lymphoproliferative syndrome and is caused by somatic mutations in NRAS or KRAS. This ... Oliveira JB (2013). "The expanding spectrum of the autoimmune lymphoproliferative syndromes". Current Opinion in Pediatrics. 25 ... "Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation". Blood. 117 (10): 2887-2890. doi:10.1182/blood ... "NRAS mutation causes a human autoimmune lymphoproliferative syndrome". Proc. Natl. Acad. Sci. USA. 104 (21): 8953-8958. doi: ...
... uremic syndrome Austrian syndrome Autoimmune disease Autoimmune lymphoproliferative syndrome Autoimmune polyendocrine syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Hero syndrome Heyde's syndrome High-rise syndrome HIV/AIDS Holiday heart syndrome Holt-Oram syndrome Hopkins syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ...
TNFRSF5 (Hyper-IgM syndrome type 3). *TNFRSF13C (CVID4). *TNFRSF13B (CVID2). *TNFRSF6 (Autoimmune lymphoproliferative syndrome ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in the gastrointestinal ... polyposis syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN hamartoma tumor syndrome. ...
TNFRSF5 (Hyper-IgM syndrome type 3). *TNFRSF13C (CVID4). *TNFRSF13B (CVID2). *TNFRSF6 (Autoimmune lymphoproliferative syndrome ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... Persistent Mullerian Duct Syndrome (PMDS), also known as Persistent Oviduct Syndrome, is a congenital disorder related to male ... Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian tubes, uterus, and/or the ...
IPEX syndrome (defective IPEX gene), CD40 gene defect, and autoimmune lymphoproliferative syndrome (defective Fas receptor gene ... Hypereosinophilic Syndrome research in UK Hypereosinophilic Syndrome on patient.info Hypereosinophilic Syndrome on eMedicine ... Sjogren syndrome, thromboangiitis obliterans, Behcet syndrome, IgG4-related disease, inflammatory bowel diseases, sarcoidosis, ... see mutations in the hymperimmoglobulin E syndrome). Omenn syndrome is a severe combined immuodeficiency disease characterized ...
TNFRSF5 (Hyper-IgM syndrome type 3). *TNFRSF13C (CVID4). *TNFRSF13B (CVID2). *TNFRSF6 (Autoimmune lymphoproliferative syndrome ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... AMHR2 (Persistent Müllerian duct syndrome II). *TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia ... and Crouzon syndrome with acanthosis nigricans". Endocr. Rev. 21 (1): 23-39. doi:10.1210/er.21.1.23. PMID 10696568.. ...
Immune deficiency syndromes. *Autoimmune diseases[9]. Many recipients of HSCTs are multiple myeloma[10] or leukemia patients[11 ... The main indications for transplant were lymphoproliferative disorders (55 percent) and leukemias (34 percent), and the ... As survival following the procedure has increased, its use has expanded beyond cancer to autoimmune diseases[4][5] and ... Autoimmune Disease and Lymphoma Working Parties of the European Group for Blood and Marrow Transplantation, the European League ...
... is also associated with the autoimmune disorder Sjögren's syndrome, a low platelet count, lichen planus, porphyria ... and B-cell lymphoproliferative disorders. 20-30% of people infected have rheumatoid factor - a type of antibody. Possible ... and a syndrome of cognitive impairment known as hepatic encephalopathy. Ascites occurs at some stage in more than half of those ... cutanea tarda, necrolytic acral erythema, insulin resistance, diabetes mellitus, diabetic nephropathy, autoimmune thyroiditis, ...
Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome,[1] is a form of lymphoproliferative ... 2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: A multi-institutional study". Blood. 115 ( ... "Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)". Blood. 108 (6): 1965- ...
... and autoimmune cytopenias. In 1995, defective lymphocyte apoptosis secondary to mutations in the FAS gene was identified as a ... Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, ... encoded search term (Autoimmune Lymphoproliferative Syndrome) and Autoimmune Lymphoproliferative Syndrome What to Read Next on ... A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease. Clin ...
Syndrome. Autoimmune Lymphoproliferative Syndrome. Disease. Pathologic Processes. Lymphoproliferative Disorders. Lymphatic ... Autoimmune lymphoproliferative syndrome Genetic and Rare Diseases Information Center resources: Autoimmune Lymphoproliferative ... Study of Autoimmune Lymphoproliferative Syndrome (ALPS). The safety and scientific validity of this study is the responsibility ... Autoimmune lymphoproliferative syndrome is a rare disease that affects both children and adults. Each of these three words ...
Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis ... Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome. The safety and scientific validity of ... Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome. Official Title ICMJE Pilot Study of ... The Autoimmune Lymphoproliferative Syndrome is an inherited disease associated with a defect of lymphocyte apoptosis, ...
The disorder can be managed by treating low blood-cell counts (cytopenias) and other autoimmune diseases that occur in people ... Autoimmune Lymphoproliferative Syndrome (ALPS) Treatment. Autoimmune Lymphoproliferative Syndrome (ALPS). *Autoimmune ... Diseases & Conditions > Autoimmune Lymphoproliferative Syndrome (ALPS). share with facebook share with twitter share with ... The disorder can be managed by treating low blood-cell counts (cytopenias) and other autoimmune diseases that occur in people ...
D89.82 - Autoimmune lymphoproliferative syndrome [ALPS]. SNOMEDCT:. 702444009 - Autoimmune lymphoproliferative syndrome. Best ... Autoimmune lymphoproliferative syndrome. Subscriber Sign In VisualDx Mobile Feedback Select Language Share ... Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease caused by a mutation of genes responsible for monitoring ... a child first presents with lymphoproliferative symptoms of lymphadenopathy and splenomegaly and years later with autoimmune ...
Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS). Blood 2006;108(6):1965 ... A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992;90(2):334-341. ... Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin ... A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood 2011;118(18):4798-4807. ...
... Del-Rey M.J., Manzanares J. ... Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by chronic lymphoproliferation, ... autoimmune manifestations and expansion of TCRalphabeta+CD4-CD8-lymphocytes. The main pathogenic factor is a defective Fas- ...
How can autoimmune lymphoproliferative syndrome be prevented?. ALPS is not an acquired disease, but is present at birth, either ... Autoimmune lymphoproliferative syndrome symptoms:. The most common symptoms are: Lymphadenopathy, splenomegaly (with or without ... If you are able to confirm that the patient has autoimmune lymphoproliferative syndrome, what treatment should be initiated? ... "Autoimmune lymphoproliferative syndrome (ALPS)". Curr Pharm Des. vol. 9. 2003. pp. 265. ...
Autoimmune Lymphoproliferative Syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient ... Types of Autoimmune Lymphoproliferative Syndrome *Causes of Autoimmune Lymphoproliferative Syndrome *Symptoms of Autoimmune ... Contents for Autoimmune Lymphoproliferative Syndrome: *Autoimmune Lymphoproliferative Syndrome *What is Autoimmune ... more about Autoimmune Lymphoproliferative Syndrome.. Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition ...
... and questions answered by our Genetic and Rare Diseases Information Specialists for Autoimmune lymphoproliferative syndrome ... Autoimmune lymphoproliferative syndrome Title Other Names:. ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative ... ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome. *Autoimmune Lymphoproliferative Syndrome (ALPS). National ... syndrome type 1, autosomal dominant; ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome type 1, autosomal ...
Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A disease page. Quantitative data and detailed annnotation of the ... Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A. GtoPdb Disease Summaries. This section gives an overview of the ... No ligand related data available for Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A ...
Autoimmune lymphoproliferative syndrome-like syndrome presented as lupus-like syndrome with mycobacterial joint infection ... The autoimmune lymphoproliferative syndrome (ALPS, Canale-Smith syndrome) of early childhood1,2 is caused by disturbance of ... Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. Haematologica. 2013;98(3):389-392. ... Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med. 2004;351(14):1409-1418. ...
... answered by our Genetic and Rare Diseases Information Specialists for Dianzani autoimmune lymphoproliferative syndrome ... Dianzani autoimmune lymphoproliferative syndrome Title Other Names:. Dianzani form of autoimmune lymphoproliferative disease; ... Registries for Dianzani autoimmune lymphoproliferative syndrome:. European Society for Immunodeficiencies (ESID) Registry. ... such as being diagnosed with Dianzani autoimmune lymphoproliferative syndrome. The type of data collected can vary from ...
Autoimmune lymphoproliferative syndrome. Clinical Information *An autoimmune hematologic disorder characterized by autoimmune ... Autoimmune lymphoproliferative syndrome [ALPS]. 2016 2017 2018 Billable/Specific Code *D89.82 is a billable/specific ICD-10-CM ... D89.82 Autoimmune lymphoproliferative syndrome [ALPS] D89.89 Other specified disorders involving the immune mechanism, not ... Autoimmune* lymphoproliferative syndrome [ALPS] D89.82. * Syndrome - see also Disease* autoimmune lymphoproliferative [ALPS] ...
... Common Name(s). Autoimmune lymphoproliferative syndrome, type IV ... WAGR Syndrome; Wolf-Hirschhorn Syndrome; 4p16.3 Microduplication Syndrome; 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome; ... Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome ... "Autoimmune lymphoproliferative syndrome, type IV" (open studies are recruiting volunteers) and 1 "Autoimmune ...
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant*Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal ... "Autoimmune Lymphoproliferative Syndrome" by people in this website by year, and whether "Autoimmune Lymphoproliferative ... Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves clothing? Pancreas. 2013 Mar ... Autoimmune Lymphoproliferative Syndrome [C15.604.515.138]. *Congenital, Hereditary, and Neonatal Diseases and Abnormalities [ ...
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS description, symptoms and related genes. Get the complete information in our ... AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS Autoimmune Lymphoproliferative Syndrome; Alps. Description. Autoimmune ... Autoimmune Lymphoproliferative Syndrome; Alps Is also known as canale-smith syndrome, autoimmune lymphoproliferative syndrome, ... For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009).. Genetic Heterogeneity of Autoimmune ...
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, ... Impaired Fas-induced apoptosis of lymphocytes in vitro is a principal feature of the autoimmune lymphoproliferative syndrome ( ...
2005). Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. Blood 115, ... 2004). Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N. Engl. J. Med. 351, 1409-1418. doi: 10.1056/ ... 1999). Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am. J. Hum. Genet. 64, 1002- ...
Autoimmune lymphoproliferative syndrome; ALPS disease page. Quantitative data and detailed annnotation of the targets of ... Autoimmune lymphoproliferative syndrome; ALPS. GtoPdb Disease Summaries. This section gives an overview of the disease, and ... It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias. Genes ...
Autoimmune lymphoproliferative syndrome. Genetics Home Reference provides information about autoimmune lymphoproliferative ... The PIK3CD gene mutations involved in activated PI3K-delta syndrome change single protein building blocks (amino acids) in the ... Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol. 2014 ... People with activated PI3K-delta syndrome typically have recurrent bacterial infections of the respiratory tract and chronic ...
The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal tolerance. Autoimmun Rev. 2010 May;9( ... Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. Br J Haematol. 2006 Apr;133(2):124- ... The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis. Immunol Res. 2008;40(1):87 ... Poppema S, Maggio E, van den Berg A. Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its ...
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.. Aricò M1, Boggio E, Cetica V, Melensi ... Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by ... This latter expansion is absent in the ALPS variant named Dianzani Autoimmune/lymphoproliferative Disease (DALD). In addition ...
... and questions answered by our Genetic and Rare Diseases Information Specialists for Autoimmune lymphoproliferative syndrome ... Autoimmune lymphoproliferative syndrome Title Other Names:. ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative ... ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome. *Autoimmune Lymphoproliferative Syndrome (ALPS). National ... The Autoimmune Registry supports research for Autoimmune lymphoproliferative syndrome by collecting information about patients ...
  • More detailed information about the symptoms , causes , and treatments of Autoimmune Lymphoproliferative Syndrome is available below. (rightdiagnosis.com)
  • Based on the findings of our case and the current literature, it is clear that the RAS mutation in lymphoid cells is tightly linked with various autoimmune symptoms. (aappublications.org)
  • It is interesting to note that muscle weakness and mental symptoms are thought to be less common than in adults with Cushing syndrome. (neurologyadvisor.com)
  • ABSTRACTBackgroundClinical variables that predict long ‐term mortality and recurrence of Takotsubo syndrome (TTS) are not completely understoodas the role of acquired QTc interval prolongation.Methods and resultsQTc intervals were analysed in 105 patients presenting with symptoms of TTS. (medworm.com)
  • NOMID/ CINCA is the most severe cryoprin-associated periodic syndrome (CAPS) with chronic rash, continuous symptoms and frequent flares not necessarily accompanied by fever. (oncologynurseadvisor.com)
  • 2009) Mutation of SHOC2 promotes aberrant protein N‐myristoylation and causes Noonan‐like syndrome with loose anagen hair. (els.net)
  • The heterozygous mutation in the FASL gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient's immunodepression is discussed. (hindawi.com)
  • The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis. (nih.gov)
  • He also pursued various virological, immunological, neuroendocrine and neuropsychological studies of the syndrome. (wikipedia.org)
  • Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel. (mendelian.co)
  • Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (springer.com)
  • TPMT and MTHFR genotype is not associated with altered risk of thioguanine-related sinusoidal obstruction syndrome in pediatric acute lymphoblastic leukemia : A report from the Children's Oncology Group. (ohsu.edu)
  • Rieux-Laucat F. Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome. (nih.gov)
  • SCID is a syndrome caused by defects in at least 18 genes. (healio.com)
  • Cushing syndrome or pathologic cortisol excess is a rare condition in the pediatric population. (neurologyadvisor.com)
  • Hypofibrinogenemia Is Associated With Poor Outcome and Secondary Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in Pediatric Severe Sepsis. (nih.gov)
  • Our case report illustrates that cutaneous tumours other than lymphangiosarcomas may localize to a lymphoedematous limb and clinically simulate the Stewart-Treves syndrome. (lymphedemapeople.com)