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.
Disorders characterized by proliferation of lymphoid tissue, general or unspecified.
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.
Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.
A characteristic symptom complex.
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.
Enlargement of the spleen.
Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
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.
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.
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.
Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.
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.
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)

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 a rare genetic disorder that affects the immune system. It is characterized by the overproduction of lymphocytes (a type of white blood cell) and the accumulation of these cells in various organs, such as the liver, spleen, and lymph nodes. ALPS is caused by mutations in genes that regulate the development and function of immune cells. These mutations can lead to the production of abnormal immune cells that do not function properly, leading to an overactive immune response and the development of autoimmune diseases. Symptoms of ALPS can vary widely and may include fatigue, fever, night sweats, weight loss, and swollen lymph nodes. In some cases, ALPS can also cause more serious complications, such as liver damage, anemia, and bleeding disorders. Treatment for ALPS typically involves managing symptoms and preventing complications. This may include medications to suppress the immune system, blood transfusions, and surgery to remove swollen lymph nodes or damaged organs. In some cases, bone marrow transplantation may also be considered as a treatment option.

Lymphoproliferative disorders are a group of conditions characterized by the abnormal growth and proliferation of lymphocytes, a type of white blood cell that plays a crucial role in the immune system. These disorders can affect any part of the lymphatic system, including the lymph nodes, spleen, bone marrow, and thymus. Lymphoproliferative disorders can be classified into two main categories: Hodgkin lymphoma and non-Hodgkin lymphoma. Hodgkin lymphoma is a type of cancer that affects the lymphatic system, while non-Hodgkin lymphoma is a more general term that encompasses a wide range of lymphatic system disorders, including lymphoma, leukemia, and myeloma. Lymphoproliferative disorders can be caused by a variety of factors, including viral infections, genetic mutations, and exposure to certain chemicals or radiation. Symptoms of these disorders can vary widely depending on the specific type and location of the affected lymphatic tissue, but may include swelling of the lymph nodes, fatigue, fever, night sweats, and weight loss. Treatment for lymphoproliferative disorders typically involves a combination of chemotherapy, radiation therapy, and/or immunotherapy, depending on the specific type and stage of the disorder. In some cases, a stem cell transplant may also be necessary. The prognosis for lymphoproliferative disorders varies depending on the specific type and stage of the disorder, as well as the age and overall health of the patient.

CD95, also known as Fas or Apo-1, is a cell surface protein that plays a role in the regulation of immune responses and cell death. Antigens, CD95 refers to molecules that bind to the CD95 protein on the surface of immune cells, triggering a cascade of events that can lead to cell death. This process is known as apoptosis and is an important mechanism for eliminating damaged or infected cells from the body. CD95 antigens are also involved in the regulation of immune responses, including the activation and differentiation of T cells and B cells. In the medical field, CD95 antigens are often studied as potential targets for the treatment of various diseases, including cancer, autoimmune disorders, and viral infections.

Autoimmune diseases are a group of disorders in which the immune system mistakenly attacks healthy cells and tissues in the body. In a healthy immune system, the body recognizes and attacks foreign substances, such as viruses and bacteria, to protect itself. However, in autoimmune diseases, the immune system becomes overactive and begins to attack the body's own cells and tissues. There are over 80 different types of autoimmune diseases, and they can affect various parts of the body, including the joints, skin, muscles, blood vessels, and organs such as the thyroid gland, pancreas, and liver. Some common examples of autoimmune diseases include rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, and inflammatory bowel disease. The exact cause of autoimmune diseases is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment for autoimmune diseases typically involves managing symptoms and reducing inflammation, and may include medications, lifestyle changes, and in some cases, surgery.

In the medical field, a syndrome is a set of symptoms and signs that occur together and suggest the presence of a particular disease or condition. A syndrome is often defined by a specific pattern of symptoms that are not caused by a single underlying disease, but rather by a combination of factors, such as genetic, environmental, or hormonal. For example, Down syndrome is a genetic disorder that is characterized by a specific set of physical and intellectual characteristics, such as a flattened facial profile, short stature, and intellectual disability. Similarly, the flu syndrome is a set of symptoms that occur together, such as fever, cough, sore throat, and body aches, that suggest the presence of an influenza virus infection. Diagnosing a syndrome involves identifying the specific set of symptoms and signs that are present, as well as ruling out other possible causes of those symptoms. Once a syndrome is diagnosed, it can help guide treatment and management of the underlying condition.

Caspase 10 is an enzyme that plays a role in the regulation of programmed cell death, also known as apoptosis. It is a cysteine protease that is activated in response to various cellular stress signals, such as DNA damage, oxidative stress, and inflammation. Caspase 10 is involved in the initiation of the intrinsic pathway of apoptosis, which is activated by the release of cytochrome c from the mitochondria. Once activated, caspase 10 cleaves other proteins, leading to the characteristic changes in cell structure and function that are associated with apoptosis. In addition to its role in apoptosis, caspase 10 has also been implicated in the regulation of inflammation and the immune response.

Splenomegaly is a medical condition characterized by an enlargement of the spleen, which is a vital organ in the body that plays a crucial role in the immune system. The spleen is responsible for filtering blood, removing old or damaged red blood cells, and producing white blood cells that help fight infections. Splenomegaly can be caused by a variety of factors, including infections, autoimmune disorders, blood disorders, and certain types of cancer. In some cases, the cause of splenomegaly may be unknown. Symptoms of splenomegaly may include abdominal pain, discomfort, and fullness, as well as fatigue, weakness, and anemia. In severe cases, splenomegaly can lead to complications such as bleeding, infection, and organ failure. Diagnosis of splenomegaly typically involves a physical examination, blood tests, imaging studies such as ultrasound or CT scans, and in some cases, a biopsy of the spleen. Treatment of splenomegaly depends on the underlying cause and may include medications, surgery, or other therapies.

Anemia, Hemolytic, Autoimmune is a type of anemia that occurs when the immune system attacks and destroys red blood cells, leading to their premature destruction or breakdown. This type of anemia is also known as autoimmune hemolytic anemia (AIHA). In AIHA, the immune system produces antibodies that target red blood cells, causing them to be destroyed by the spleen or liver. This leads to a decrease in the number of red blood cells in the body, which can cause symptoms such as fatigue, weakness, shortness of breath, and pale skin. There are several types of AIHA, including warm antibody AIHA, cold antibody AIHA, and paroxysmal cold hemoglobinuria. Treatment for AIHA typically involves medications to suppress the immune system, such as corticosteroids or immunosuppressive drugs, as well as blood transfusions in severe cases.

Fas Ligand Protein (FasL) is a type of protein that plays a crucial role in the regulation of the immune system. It is also known as tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) or Apo-2L. FasL is expressed on the surface of certain immune cells, such as natural killer (NK) cells and cytotoxic T cells, and it binds to a protein receptor called Fas (also known as CD95) on the surface of target cells. When FasL binds to Fas, it triggers a process called apoptosis, which is a form of programmed cell death. In the context of the immune system, FasL is important for eliminating infected or cancerous cells. However, when FasL is expressed at high levels, it can also contribute to autoimmune diseases and tissue damage. Therefore, the regulation of FasL expression is tightly controlled in the body.

Apoptosis is a programmed cell death process that occurs naturally in the body. It is a vital mechanism for maintaining tissue homeostasis and eliminating damaged or unwanted cells. During apoptosis, cells undergo a series of changes that ultimately lead to their death and removal from the body. These changes include chromatin condensation, DNA fragmentation, and the formation of apoptotic bodies, which are engulfed by neighboring cells or removed by immune cells. Apoptosis plays a critical role in many physiological processes, including embryonic development, tissue repair, and immune function. However, when apoptosis is disrupted or dysregulated, it can contribute to the development of various diseases, including cancer, autoimmune disorders, and neurodegenerative diseases.

Lymphatic diseases refer to a group of disorders that affect the lymphatic system, which is a network of vessels, tissues, and organs that help to transport lymph fluid throughout the body. The lymphatic system plays a crucial role in the immune system, as it helps to filter out harmful substances and transport white blood cells to areas of the body where they are needed to fight infections. Lymphatic diseases can affect any part of the lymphatic system, including the lymph nodes, lymph vessels, and the spleen. Some common examples of lymphatic diseases include: 1. Lymphedema: A condition in which the lymphatic system is unable to drain lymph fluid properly, leading to swelling in the affected area. 2. Lymphoma: A type of cancer that affects the lymphatic system, causing the growth of abnormal lymphocytes (white blood cells) in the lymph nodes and other tissues. 3. Castleman's disease: A rare disorder characterized by the abnormal growth of lymph nodes, which can cause symptoms such as fever, weight loss, and fatigue. 4. Lymphatic filariasis: A parasitic infection that affects the lymphatic system, causing swelling in the legs and other areas of the body. 5. Primary Sjogren's syndrome: An autoimmune disorder that affects the glands that produce saliva and tears, leading to dryness and inflammation in the eyes and mouth. Treatment for lymphatic diseases depends on the specific condition and its severity. In some cases, medications or lifestyle changes may be sufficient to manage symptoms. In more severe cases, surgery or other medical interventions may be necessary.

... (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte ... 2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... 2006). "Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)". Blood. 108 (6 ... These include autoimmune hemolytic anemia, autoimmune neutropenia, and autoimmune thrombocytopenia. Other autoimmune ...
ITCH Autoimmune lymphoproliferative syndrome, type IA; 601859; TNFRSF6 Autoimmune lymphoproliferative syndrome, type II; 603909 ... CASP10 Autoimmune lymphoproliferative syndrome, type IIB; 607271; CASP8 Autoimmune polyendocrinopathy syndrome, type I, with or ... ITK Lymphoproliferative syndrome, X-linked, 2; 300635; BIRC4 Lymphoproliferative syndrome, X-linked; 308240; SH2D1A Lysinuric ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ...
Monogenic autoimmune lymphoproliferative syndromes". In Ian R. Mackay; Noel R. Rose (eds.). The Autoimmune Diseases (5th ed.). ...
Other conditions that may be confused with this condition include autoimmune lymphoproliferative syndrome. As a syndrome of ... November 2013). "Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis". Pediatrics. 132 ( ... and myelodysplastic syndrome. In rheumatic diseases, this syndrome is more often referred to as Macrophage Activation Syndrome ... Emperipolesis X-linked lymphoproliferative disease#XLP2 Fisman, David N. (2000). "Hemophagocytic syndromes and infection". ...
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. Bibcode ...
CHAI stands for "Autoimmune lymphoproliferative syndrome due to CTLA4 haplo-insufficiency." The disease is characterized by ... "Orphanet: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency". www.orpha.net. Retrieved 2021-03-01. Lo, ... autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy. It is closely linked to LATIAE ... Autoimmune diseases, All stub articles, Genetic disorder stubs). ...
"Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome ... mTOR pathways have been identified in certain lymphoproliferative diseases such as autoimmune lymphoproliferative syndrome ( ... Scleroderma, also known as systemic sclerosis, is a chronic systemic autoimmune disease characterised by hardening (sclero) of ... "Constitutive activation of mTOR signaling pathway in post-transplant lymphoproliferative disorders." Laboratory Investigation ...
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 (2 ... 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 ...
... (LIP) is a syndrome secondary to autoimmune and other lymphoproliferative disorders. ... Patients presenting with no symptoms, and not affected by the syndrome may not require treatment. Corticosteroids have been ... Possible causes of lymphocytic interstitial pneumonia include the Epstein-Barr virus, auto-immune, and HIV. Arterial blood ...
... including Autoimmune Lymphoproliferative Syndrome, Caspase-8 deficiency syndrome, PASLI disease, XMEN disease, and most ... Autoimmune Lymphoproliferative Syndrome CHAPLE Disease XMEN Disease PASLI Disease CHAI Disease "Michael Lenardo, M.D. , NIH: ...
2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... Pre-existing autoimmune diseases can include autoimmune lymphoproliferative syndrome (ALPS), combined variable immunodeficiency ... T cells which is a strong predictor for having autoimmune lymphoproliferative syndrome. Evans syndrome is considered a very ... primary Evans syndrome: 10.9 years; secondary Evans syndrome: 1.7 years). Secondary Evans syndrome was associated with higher ...
"Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis". ... Lee PY (2018). "Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of ... each reporting systemic inflammation and vasculitis syndromes caused by mutations in ADA2. The DADA2 Foundation was formed in ... including bone marrow failure syndromes". Haematologica. 105 (1): e1-e4. doi:10.3324/haematol.2019.216069. PMC 6939539. PMID ...
Poppema S, Maggio E, van den Berg A (March 2004). "Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) ... Yonehara S (2003). "Death receptor Fas and autoimmune disease: from the original generation to therapeutic application of ...
Such patients present with Behçet-like characteristics or an autoimmune lymphoproliferative syndrome (ALPS)-like phenotype. In ... Sweet syndrome or Neutrophilic panniculitis) Inflammasome activation (Mevalonate kinase deficiency or Muckle-Wells syndrome) NF ... This syndrome is caused by mutation in the gene which encodes subunit β type-8 of proteasome (PSMB8 gene). Due to this mutation ... A key difference is a malfunction of the innate immune system in AIDs, while in autoimmune diseases there is a malfunction of ...
GeneReviews/NCBI/NIH/UW entry on Autoimmune Lymphoproliferative Syndrome The MEROPS online database for peptidases and their ... Mutations in this gene are associated with apoptosis defects seen in type II autoimmune lymphoproliferative syndrome. Three ... Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type ...
Germline mutation of Fas is associated with autoimmune lymphoproliferative syndrome (ALPS), a childhood disorder of apoptosis. ... GeneReviews/NCBI/NIH/UW entry on Autoimmune Lymphoproliferative Syndrome Online Mendelian Inheritance in Man (OMIM): 601859 Fas ... Increases in Fas-mediated signaling have been implicated in the pathology of low-risk myelodysplastic syndromes (MDS) and ... Therapeutic rationales for the suppression of Fas signaling in the context of glioblastoma and myelodysplastic syndromes (MDS) ...
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 ...
Notably, the Fas death domain can have mutations that lead to autoimmune lymphoproliferative syndrome (ALPS), lung cancer, and ...
GeneReviews/NCBI/NIH/UW entry on Autoimmune Lymphoproliferative Syndrome This article incorporates text from the United States ...
... 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 ... virus-associated lymphoproliferative diseases Castleman disease X-linked lymphoproliferative disease Lymphoproliferative ... and malignant Epstein-Barr virus-associated lymphoproliferative diseases. Evans syndrome Leukaemia Lymphoma Lymphocytosis ...
... the autoimmune lymphoproliferative syndrome, and the WHIM syndrome. 2) Immunosuppressive drug therapy, particularly ... Epstein-Barr virus-associated lymphoproliferative diseases (also abbreviated EBV-associated lymphoproliferative diseases or ... or the Wiskott-Aldrich syndrome. They may also have, again based on case reports, a history of inflammatory/autoimmune diseases ... EBV-associated B cell lymphoproliferative disorders, EBV-associated NK/T cell lymphoproliferative disorders, EBV-associated ...
... an English band Autoimmune lymphoproliferative syndrome, a form of lymphoproliferative disorder ALPS (disambiguation) Alpes ( ...
Examples of autosomal dominant cancer syndromes are autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), Beckwith- ... A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, ... Lynch syndrome), Howel-Evans syndrome of esophageal 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 ...
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- ... Neuro-cardio-facial-cutaneous syndromes, Neurological disorders, Syndromes, RASopathies, Valvular heart disease). ... The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that ...
... rheumatoid arthritis Lymphoproliferative disorders: lymphoma, autoimmune lymphoproliferative syndrome Unicentric Castleman ... There is no evidence of POEMS syndrome, HHV-8, or any other cancer or infectious disease. Though all forms of MCD involve ... If symptoms are due to an inflammatory syndrome, then anti-interleukin-6 (IL-6) therapy is recommended. If these treatments are ... In patients who have both POEMS-associated MCD, treatment should be directed at the POEMS syndrome. HHV-8-associated MCD ...
... a multinational corporation based in Japan Autoimmune lymphoproliferative syndrome Advanced Liquid Processing System developed ...
... autoimmune lymphoproliferative syndrome - autoradiography - autosomal dominant - autosome - avidin - B3/B4 tRNA-binding domain ... Wolfram syndrome - WWE protein domain - XPC-binding - XPG I protein domain - Xyloglucan endo-transglycosylase - YAC (yeast ... Fragile X syndrome - frameshift mutation - fructose 5-dehydrogenase - fucoidanase - fungal fruit body lectin family - fusion ... Alagille syndrome - alkaline lysis - allele - amino acids - amino terminus - amp resistance - amplification - amplicon - anchor ...
... syntaxin 11 deficiency X-linked lymphoproliferative syndrome Syndromes with autoimmunity: (a) Autoimmune lymphoproliferative ... Factor H deficiency Thrombomodulin deficiency CHAPEL disease Autoimmune lymphoproliferative syndrome RAS-associated autoimmune ... syndrome Nijmegen breakage syndrome Bloom syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1, 2 ... Singleton-Merten syndrome TNF receptor associated periodic syndrome (TRAPS) Hyper-IgD syndrome (Mevalonate kinase deficiency) ...
... 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 Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
IPEX syndrome (defective IPEX gene), CD40 gene defect, and autoimmune lymphoproliferative syndrome (defective Fas receptor gene ... Congenital disorders Hyperimmunoglobulin E syndrome Omenn syndrome Familial eosinophilia Eosinophilia-myalgia syndrome ... Hypereosinophilic Syndrome research in UK Archived 2018-08-05 at the Wayback Machine Hypereosinophilic Syndrome on patient.info ... see mutations in the hymperimmoglobulin E syndrome). Omenn syndrome is a severe combined immunodeficiency disease characterized ...
Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte ... 2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... 2006). "Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)". Blood. 108 (6 ... These include autoimmune hemolytic anemia, autoimmune neutropenia, and autoimmune thrombocytopenia. Other autoimmune ...
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number ... medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/ Autoimmune lymphoproliferative syndrome. ... Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number ... The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal tolerance. Autoimmun Rev. 2010 May;9( ...
... 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 ... Autoimmune lymphoproliferative syndrome (ALPS) classification and ALPS-related syndrome (ALPS-like disorder). The nomenclature ...
... 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 ... Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, and autoimmune ...
Variation registry for Autoimmune lymphoproliferative syndrome, type II Select database by name. ADAbase. AICDAbase. AIREbase. ...
Autoimmune Lymphoproliferative Syndrome * 2010epogen-procrit-epoetin-alfa-342151. Drugs epoetin alfa * 20021161799-overview ...
Autoimmune lymphoproliferative syndrome 1. 0/1. 15. 11. B cell expansion with NF-κB and T cell anergy 1. 1/0. 18. ...
Dominant expression of interleukin 10 but not interferon γ in CD4-CD8- αβT cells of autoimmune lymphoproliferative syndrome. / ... Dominant expression of interleukin 10 but not interferon γ in CD4-CD8- αβT cells of autoimmune lymphoproliferative syndrome. ... Dominant expression of interleukin 10 but not interferon γ in CD4-CD8- αβT cells of autoimmune lymphoproliferative syndrome. In ... Dominant expression of interleukin 10 but not interferon γ in CD4-CD8- αβT cells of autoimmune lymphoproliferative syndrome. ...
Bartonella endocarditis mimics the clinical and immunologic findings of autoimmune lymphoproliferative syndrome. ... Bartonella endocarditis mimics the clinical and immunologic findings of autoimmune lymphop ...
Autoimmune lymphoproliferative syndromes. Brite. KEGG Orthology (KO) [BR:hsa00001]. 09130 Environmental Information Processing ... 05320 Autoimmune thyroid disease. 356 (FASLG). 05330 Allograft rejection. 356 (FASLG). 05332 Graft-versus-host disease. 356 ( ...
autoimmune interstitial lung, joint, and kidney disease autoimmune lymphoproliferative syndrome type 2B ... urofacial syndrome + A syndrome that is characterized by inverted facial expressions in association with a severe and early- ... Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome ... urofacial syndrome (DOID:0050816). Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: ( ...
Autoimmune Lymphoproliferative Syndrome (ALPS). BLH/BSH. Anbefalet, når BLH/BSH importeres fra New Zealand eller Australien. ...
... is a chronic inflammatory and lymphoproliferative autoimmune disease of unknown aetiology. It is characterised by progressive ... Sjögrens syndrome (SS) is a chronic inflammatory and lymphoproliferative autoimmune disease of unknown aetiology. It is ... Role of dendritic cells in Sjögrens syndrome Scand J Immunol. 2006 Sep;64(3):219-26. doi: 10.1111/j.1365-3083.2006.01811.x. ...
Autoimmune lymphoproliferative syndrome (ALPS) in a patient with common variable immunodeficiency (CVID): Fas deficiency with ... Autoimmune lymphoproliferative syndrome in a patient with common variable immunodeficiency: dichotomy of apoptosis. Ann Allergy ...
FADD (autoimmune lymphoproliferative syndrome) [3]. You might think that given how rare these diseases are, the impact of such ... Fowler syndrome [13], Miller Syndrome [17], Kabuki syndrome [16], Sensenbrenner syndrome [7], Brown-Vialetto-van Laere syndrome ... "Exome sequencing in Brown-Vialetto-van Laere syndrome." Am J Hum Genet 87(4): 567-9; author reply 569-70. ... "Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing." ...
Evans syndrome is the coexistence of simultaneous or sequential direct Coombs-positive autoimmune hemolytic anemia (AIHA) with ... Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood ... of patients with Evans syndrome might have autoimmune lymphoproliferative syndrome (ALPS), a novel finding with potentially ... Evans syndrome is the presence of simultaneous or sequential direct Coombs-positive autoimmune hemolytic anemia (AIHA) in ...
Other diseases, such as systemic lupus erythematosus, inflammatory bowel disease, and autoimmune lymphoproliferative syndrome, ... Foell D, Roth J. Proinflammatory S100 proteins in arthritis and autoimmune disease. Arthritis Rheum 2004; 50: 3762-3771, doi: ... Proinflammatory S100 proteins in arthritis and autoimmune disease. Arthritis Rheum 2004; 50: 3762-3771, doi: 10.1002/art.20631. ...
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Rao, V. K., Price, S ... Acute megakaryoblastic leukemia in Down syndrome: Orbital infiltration. Olson, J. L., May, M. J., Stork, L., Kadan, N. & ... Lymphoblast biology and outcome among children with down syndrome and ALL treated on CCG-1952. Bassal, M., La, M. K., Whitlock ... Excellent long-term survival of children with Down syndrome and standard-risk ALL: A report from the Childrens Oncology Group ...
Autoimmune Lymphoproliferative Syndrome. Blood-brain Barrier Dysfunction, MDR1 / ABCB1. Chylomicronemia, Lipoprotein Lipase ... Congenital Myasthenic Syndrome (CMS). Cystinuria; SCL3A1 mutation. Cystinuria; SCL7A9 mutation: c.1175C,T. Cystinuria; SCL7A9 ...
Autoimmune lymphoproliferative syndrome. *Plasma cell tumor. *Immunodeficiency-associated lymphoproliferative disease. * ...
Autoimmune lymphoproliferative syndrome From NCATS Genetic and Rare Diseases Information Center Dianzani autoimmune ... lymphoproliferative syndrome From NCATS Genetic and Rare Diseases Information Center Autoimmune lymphoproliferative syndrome ...
Canale-Smith Syndromes Lymphoproliferative Syndrome, Autoimmune Lymphoproliferative Syndromes, Autoimmune Syndrome, Autoimmune ... Lymphoproliferative Syndrome, Autoimmune. Lymphoproliferative Syndromes, Autoimmune. Syndrome, Autoimmune Lymphoproliferative. ... Syndrome, Canale-Smith Syndromes, Autoimmune Lymphoproliferative Syndromes, Canale-Smith Autoimmune Lymphoproliferative ... Autoimmune Lymphoproliferative Syndrome Type 2B. Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B). Autoimmune ...
Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A Synonyms:. Autoimmune lymphoproliferative syndrome [Orphanet: ...
Autoimmune lymphoproliferative syndrome (APLS): *Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) AND ... Serologies for autoimmune hepatitis (eg, antinuclear antibodies, anti-smooth muscle antibodies, and anti-liver-kidney ... Hyper-IgD syndrome (commonly caused by MVK mutations; also presents with elevated IgA concentrations) ... Additional tests to consider in autoimmune disease and vasculitis: *Antinuclear antibody test, followed by more specific anti- ...
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV. BLADDER CANCER, SOMATIC. BLADDER CANCER, SOMATIC, INCLUDED. ...
Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with ... Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary ... Autoimmune lymphoproliferative syndrome type 2A. Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ... Autoimmune lymphoproliferative syndrome type 2A. MedGen UID: 349065. •Concept ID: C1858968. •. Disease or Syndrome. ...
Autoimmune Lymphoproliferative Syndrome * Angioimmunoblastic T-Cell Lymphoma * Neck Cancer With Unknown Primary Site ... associated lymphoproliferative disease. Autoimmune etiologies include juvenile rheumatoid arthritis, which often presents with ... Within a couple of weeks of initiating phenytoin, some patients experience a syndrome of regional or generalized lymph node ... The oculoglandular syndrome consists of severe conjunctivitis, corneal ulceration, eyelid edema, and ipsilateral preauricular ...
Autoimmune Diseases Disease-Specific Research Information for Researchers Autoimmune Lymphoproliferative Syndrome (ALPS) ... He also led the NIAID research effort on transplantation and immune-related illnesses, including autoimmune disorders, asthma, ...
Autoimmune liver disease. Autoimmune lymphoproliferative syndrome. Autoimmune myocarditis. Autoimmune pancreatitis. Autoimmune ... Autoimmune polyendocrine syndrome. Autoimmune progesterone dermatitis. Autoimmune retinopathy. Autoimmune thrombocytopenic ... Autoimmune thyroid disease. Autoimmune urticaria. Autoimmune uveitis. Autoimmune sclerosing cholangitis (ASC). Autoimmune ... Autoimmune cardiomyopathy. Autoimmune dysautonomia. Autoimmune hemolytic anemia. Autoimmune hepatitis (AIH). Autoimmune ...
... such as autoimmune lymphoproliferative syndrome and Faisalabad histiocytosis.[. 4 ]. The current hypothesis is that RDD is a ... After 6 weeks, she developed a complete and symmetrical spinal cord syndrome, referring an important weakness and numbness of ... is a rare, nonneoplastic lymphoproliferative disorder that is characterized by its histological features. Clinically, It ... much progress has been made in recent years through the study of familial RDD and other rare inherited syndromes, ...
  • These include autoimmune hemolytic anemia, autoimmune neutropenia, and autoimmune thrombocytopenia. (wikipedia.org)
  • Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. (medlineplus.gov)
  • Evans syndrome is the coexistence of simultaneous or sequential direct Coombs-positive autoimmune hemolytic anemia (AIHA) with immune-mediated thrombocytopenia. (medscape.com)
  • The exact pathophysiology of Evans syndrome is unknown, although the mechanism generally seems to be related to the one associated with autoimmune hemolytic anemia and immune thrombocytopenia. (medscape.com)
  • Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) AND elevated immunoglobulin G levels (polyclonal hypergammaglobulinemia) is part of the revised diagnostic criteria for APLS. (thebloodproject.com)
  • Autoimmune lymphoproliferative syndrome (ALPS) is a form of lymphoproliferative disorder (LPDs). (wikipedia.org)
  • Patients with ALPS have a defect in this apoptotic pathway, leading to chronic non-malignant lymphoproliferation, autoimmune disease, and secondary cancers. (wikipedia.org)
  • 5% virtually pathognomonic for ALPS Mild elevations also found in other autoimmune diseases Thought to be cytotoxic T lymphocytes that have lost CD8 expression Unknown if driver of disease or epiphenomenon May be falsely elevated in setting of lymphopenia or falsely decreased with immunosuppressive treatment Biomarkers Polyclonal hypergammaglobulinemia Elevated serum FASL Elevated plasma IL-10 and/or IL-18 Elevated plasma or serum vitamin B12 Autoantibodies: Non-specific. (wikipedia.org)
  • Another sign is autoimmune cytopenias and polyclonal hypergammaglobulinemia and a family history of ALPS or non-malignant lymphoproliferation. (wikipedia.org)
  • No longer considered a subtype of ALPS but distinct disease Treatment is most commonly directed at autoimmune disease and may be needed to treat bulky lymphoproliferation. (wikipedia.org)
  • Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). (medlineplus.gov)
  • Autoimmune disorders are also common in ALPS. (medlineplus.gov)
  • Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. (medlineplus.gov)
  • Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder of lymphocyte homeostasis. (medscape.com)
  • [ 1 ] ALPS is the first disease known to be caused by a primary defect in programmed cell death and the first description of a monogenic cause of autoimmune disease. (medscape.com)
  • [ 2 ] Other ALPS-associated genetic defects in the apoptotic pathway and ALPS-like disorders (ALPS-related syndromes) have subsequently been identified. (medscape.com)
  • Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, and autoimmune cytopenias. (medscape.com)
  • ALPS-related disorders have features similar to those of ALPS but have several additional characteristics, such as additional defective T-, B-, and natural killer (NK)-cell activation in caspase 8 deficiency state (CEDS), or are missing required diagnostic features, such as an elevated number of DNT cells, as seen in RAS-associated autoimmune leukoproliferative disease (RALD). (medscape.com)
  • Cytokine expression in CD4 - CD8 - double-negative (DN) T cells of autoimmune lymphoproliferative syndrome (ALPS) was analysed. (elsevierpure.com)
  • Autoimmune lymphoproliferative syndrome (ALPS) in a patient with common variable immunodeficiency (CVID): Fas deficiency with increased apoptosis. (yumaregional.org)
  • [ 9 ] Teachey et al demonstrated that more than half (58%) of patients with Evans syndrome might have autoimmune lymphoproliferative syndrome (ALPS), a novel finding with potentially important therapeutic implications. (medscape.com)
  • Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. (medlineplus.gov)
  • As a result, excess lymphocytes accumulate in the body's tissues and organs and often begin attacking them, leading to autoimmune disorders. (medlineplus.gov)
  • [ 10 ] Several cases of Evans syndrome have also been reported in association with the group of lymphoproliferative disorders known as Castleman disease. (medscape.com)
  • Is most commonly associated with liver disease, acute or chronic inflammation, autoimmune disorders and certain malignancies. (thebloodproject.com)
  • He also led the NIAID research effort on transplantation and immune-related illnesses, including autoimmune disorders, asthma, and allergies. (nih.gov)
  • There are more than 80 recognised autoimmune disorders 7 , but only a small number of these have been investigated for a possible association with periodontitis ( Table 11-1 ). (pocketdentistry.com)
  • Fetal Alcohol Syndrome 1_0112 Slideshow People with fetal alcohol syndrome (FAS), the most severe end of the FASD spectrum, often have abnormal facial features, and/or growth and central nervous Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the most common nonheritable causes of intellectual disability. (web.app)
  • Fetal Alcohol Syndrome (FAS) and related disorders, such as Fetal Alcohol Effects (FAE), are conditions now commonly referred to by the non-diagnostic umbrella term Fetal Alcohol Characteristics and Symptoms of Fetal Alcohol Syndrome by Teresa Kellerman Fetal Alcohol Syndrome FAS is a set of mental and physical disorders that can include mental retardation, brain dysfunction, physical abnormalities, learning disabilities, and psychological disorders. (web.app)
  • 30 Nov 2006 Zapping Brain Cells: 1: Fetal alcohol syndrome and studies find a substantial rate of psychiatric disorders among adults born with FAS. (web.app)
  • The associated conditions were primary Sjögren's syndrome (21.1%), SLE (10.9%), other autoimmune disorders (10.9%), lymphoproliferative diseases (6.8%), solid tumours (2.3%) and HBsAg positivity (8.6%), whereas 69 patients (39.4%) had essential CV. (clinexprheumatol.org)
  • The most common autoimmune presentations include autoimmune cytopenias, which can be mild to very severe and intermittent or chronic. (wikipedia.org)
  • The constellation of lymphadenopathy, splenomegaly, and autoimmune cytopenias necessitating long-term immunosuppressive treatment with mycophenolate mofetil makes diagnosis and management of these patients quite challenging. (medscape.com)
  • We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. (web.app)
  • A failure of apoptosis leads to inappropriate cell survival and diseases associated with excessive accumulations of cells such as cancer, chronic inflammatory conditions, and autoimmune diseases. (medscape.com)
  • Autoimmune diseases can be divided into two categories: tissue-specific autoimmune diseases (e.g. diabetes mellitus type 1 or multiple sclerosis) and systemic autoimmune diseases (e.g. systemic lupus erythematosus). (pocketdentistry.com)
  • For the majority of autoimmune diseases, autoantigens have been identified as the targets of autoantibodies and autoreactive T cells 3 . (pocketdentistry.com)
  • An increasing number of reports in the past decade have supported the concept of an autoimmune component to periodontitis and to the potential for periodontitis to be associated with autoimmune diseases such as rheumatoid arthritis (RA) or systemic lupus erythematosus (SLE) 6 . (pocketdentistry.com)
  • In this chapter, autoimmune mechanisms found in periodontitis are outlined and existing studies investigating the possible association between periodontitis and autoimmune diseases and vice versa are discussed. (pocketdentistry.com)
  • white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). (medlineplus.gov)
  • citation needed] Autoimmune disease is the second most common clinical manifestation and one that most often requires treatment. (wikipedia.org)
  • Sjögren's syndrome (SS) is a chronic inflammatory and lymphoproliferative autoimmune disease of unknown aetiology. (nih.gov)
  • Foell D, Roth J. Proinflammatory S100 proteins in arthritis and autoimmune disease. (scielo.br)
  • The cell surface protein Fas (CD95) and its ligand play a pivotal role in regulating lymphocyte apoptosis, and defective expression of either Fas or Fas ligand results in marked overaccumulation of mature lymphocytes and autoimmune disease in mice. (medscape.com)
  • Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. (nih.gov)
  • There is evidence that the development of an autoimmune disease may occur over several years as a consequence of a 'multi-step' process. (pocketdentistry.com)
  • In 1965, Brandtzaeg and Kraus 5 were the first to postulate an autoimmune basis for the pathogenesis of periodontal disease. (pocketdentistry.com)
  • However, because of the evident role of infection in periodontitis 74 , this disease is not classified as an autoimmune disease. (pocketdentistry.com)
  • 6 months) non-malignancy and non-infectious uncontrolled proliferation of lymphocytes commonly accompanied by autoimmune manifestations, lymphadenopathy, splenomegaly, and susceptibility to malignancies. (medscape.com)
  • Sinus histiocytosis with massive lymphadenopathy (SHML), initially described in 1969 by Rosai and Dorfman,[ 22 ] is a rare, nonneoplastic lymphoproliferative disorder that is characterized by its histological features. (surgicalneurologyint.com)
  • Autoimmune lymphoproliferative syndrome in a patient with common variable immunodeficiency: dichotomy of apoptosis. (yumaregional.org)
  • Although Evans syndrome seems to be a disorder of immune regulation, the exact pathophysiology is unknown, and the underlying etiology is unclear. (medscape.com)
  • [ 4 ] This provided insights into the pathophysiology of a similar syndrome seen in humans. (medscape.com)
  • The exact pathophysiology of Evans syndrome is unknown. (medscape.com)
  • Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. (bvsalud.org)
  • 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. (wikipedia.org)
  • Savasan et al observed that more than half of the patients with Evans syndrome had evidence of lymphoid hyperactivity. (medscape.com)
  • Izaguirre R. Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS Partial fetal alcohol syndrome (pFAS) beskriver ett tillstånd med sjukvården (Adults with FASD feel under-supported in the social and health. (web.app)
  • Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. (nih.gov)
  • After puberty, the faces of patients with fetal alcohol syndrome or fetal alcohol effects were not as distinctive. (web.app)
  • Bartonella endocarditis mimics the clinical and immunologic findings of autoimmune lymphoproliferative syndrome. (bvsalud.org)
  • Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. (nih.gov)
  • Fetal alcohol syndrome is a specific recognizable pattern of malformation. (web.app)
  • Roche inleder Fas I-studie för GABA-läkemedel (Okt 2011) Därefter har FAS uppmärksammats i de flesta industrialiserade länder och är idag troligen det vanligaste Abel EL, Sokol RJ: Fetal alcohol syndrome is now leading cause of mental retardation. (web.app)
  • Fantastic Antone Grows Up: Adolescents and Adults with Fetal Alcohol Syndrome [Kleinfeld, Judith] on Amazon.com. (web.app)
  • Fetal Alcohol Syndrome (FAS). (web.app)
  • There was no difference observed between adults (18-30 years old) and adolescent clinical trial (WP28760) in children (6-11 years old) with Down syndrome. (web.app)
  • white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). (medlineplus.gov)
  • 6. Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. (nih.gov)
  • 14. Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. (nih.gov)
  • Anemia, leukopenia, thrombocytopenia and lymphoproliferative disorders are well-known extraglandular, hematological complications of Sjögren's syndrome. (kosinmedj.org)
  • Sjögren's syndrome is a systemic autoimmune disease characterized by sicca symptoms and extraglandular manifestations. (kosinmedj.org)
  • Moutsopoulos HN, Sarmas JH, Talal N. Is central nervous system involvement a systemic manifestation of primary Sjögren syndrome? (termedia.pl)
  • citation needed] Autoimmune disease is the second most common clinical manifestation and one that most often requires treatment. (wikipedia.org)
  • A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. (medscape.com)
  • Bride K, Teachey D. Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. (medscape.com)
  • If you have an autoimmune disease, your immune system attacks the healthy cells of your organs and tissues by mistake. (nih.gov)
  • For example, alopecia areata is an autoimmune disease of the skin that causes hair loss. (nih.gov)
  • Viruses, certain chemicals, and other things in the environment may trigger an autoimmune disease if you already have the genes for it. (nih.gov)
  • And if you have one autoimmune disease, you are more likely to get another. (nih.gov)
  • The symptoms of an autoimmune disease depend on the part of your body that's affected. (nih.gov)
  • There's usually not a specific test to show whether you have a certain autoimmune disease. (nih.gov)
  • Dr. Straus had extensive basic and clinical research experience related to many conditions including chronic fatigue syndrome, Lyme disease, HIV/AIDS, chronic hepatitis B virus, and genital herpes infections and chronic post-herpetic pain. (nih.gov)
  • Autoimmune lymphoproliferative syndrome is a rare disease that affects both children and adults. (nih.gov)
  • [ 10 ] Several cases of Evans syndrome have also been reported in association with the group of lymphoproliferative disorders known as Castleman disease. (medscape.com)
  • Rheumatoid arthritis is an autoimmune inflammatory disease primarily characterized by synovitis which is accompanied by extra-articular organ involvement, such as interstitial pneumonia, in addition to clinical symptoms including pain, swelling, stiffness of multiple joints, fever, and malaise. (biomedcentral.com)
  • Rheumatoid arthritis is an autoimmune inflammatory disease primarily characterized by synovitis. (biomedcentral.com)
  • In the late twentieth century, rheumatoid arthritis was recognized as an autoimmune disease primarily characterized by polyarthritis. (biomedcentral.com)
  • I would recommend Digestacure to ANYONE who has an Autoimmune disease, and I would like to thank Dr. Drucker for helping me! (drronpdrucker.com)
  • The mainstay of treatment for CVID is immunoglobulin replacement therapy, which reduces arthritic symptoms, infection recurrence, and the severity and/or incidence of the autoimmune disease. (medscape.com)
  • 16] About 20% of those with CVID develop an autoimmune disease. (medscape.com)
  • Background: Epstein-Barr virus (EBV) reactivation is a frequent event after allogeneic stem cell transplantation and may progress to life-threatening lymphoproliferative disease (EBV-LPD) in the absence of adequate EBV-specific T cell immunity. (cataleya-vb.de)
  • Primary Sjögren's syndrome (pSS) is an autoimmune connective tissue disease affecting the exocrine glands, leading to damage of their structure and impairment of their function. (termedia.pl)
  • Primary Sjögren's syndrome with central nervous system disease mimicking multiple sclerosis. (termedia.pl)
  • Neurological manifestations of primary Sjögren syndrome. (termedia.pl)
  • Neurologic manifestations in primary Sjögren syndrome: a study of 82 patients. (termedia.pl)
  • The wide spectrum of clinical manifestations in Sjögren's syndrome-associated neuropathy. (termedia.pl)
  • 10. Acute immune complex mediated glomerulonephritis in a Chinese girl with Wiskott-Aldrich syndrome variant. (nih.gov)
  • Neurologic complications of primary Sjögren's syndrome. (termedia.pl)
  • Fauchais AL, Magy L, Vidal E. Central and peripheral neurological complications of primary Sjögren's syndrome. (termedia.pl)
  • Bartonella endocarditis mimics the clinical and immunologic findings of autoimmune lymphoproliferative syndrome. (bvsalud.org)
  • NRAS mutation causes a human autoimmune lymphoproliferative syndrome. (medscape.com)
  • 2. A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4. (nih.gov)
  • 17. Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient. (nih.gov)
  • Autoimmune hepatitis affects the liver. (nih.gov)
  • 12. An unusual self-limited clonal Mott cell proliferation with lymphoplasmacytic lymphoma-like features in a child with the Wiskott-Aldrich syndrome and Von Recklinghausen's neurofibromatosis. (nih.gov)
  • The altered signaling interferes with the development of organs and tissues throughout the body, leading to the varied signs and symptoms of cardiofaciocutaneous syndrome. (nih.gov)
  • People with this syndrome have lower-than-normal numbers of immune cells, which have a diminished capacity to move through dense tissues like the skin. (nih.gov)
  • DOCK8 deficiency is one of many hyper-IgE syndromes. (nih.gov)
  • Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. (medlineplus.gov)
  • It has been 4 years and I have had no autoimmune attacks. (drronpdrucker.com)
  • Peripheral neuropathy in primary Sjögren syndrome: a population-based study. (termedia.pl)
  • 18. Stable mixed chimerism after hematopoietic stem cell transplantation in Wiskott-Aldrich syndrome. (nih.gov)
  • Has a history of primary amyloidosis, hyperviscosity or POEMS syndrome (plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes). (uchicagomedicine.org)
  • 9. A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report. (nih.gov)
  • Anterior horn syndrome: A rare manifestation of primary Sjögren's syndrome. (termedia.pl)
  • This graph shows the total number of publications written about "Lennox Gastaut Syndrome" by people in this website by year, and whether "Lennox Gastaut Syndrome" was a major or minor topic of these publications. (childrensmercy.org)
  • Below are the most recent publications written about "Lennox Gastaut Syndrome" by people in Profiles. (childrensmercy.org)
  • Below are the most recent publications written about "Camurati-Engelmann Syndrome" by people in Profiles over the past ten years. (uams.edu)
  • As a result, excess lymphocytes accumulate in the body's tissues and organs and often begin attacking them, leading to autoimmune disorders. (medlineplus.gov)
  • Myelopathies secondary to Sjögren's syndrome: treatment with monthly intravenous cyclophosphamide associated with corticosteroids. (termedia.pl)