OrganismsDiseasesChemicals and DrugsPhenomena and Processes
Candidiasis, Chronic MucocutaneousCandidiasis, CutaneousPolyendocrinopathies, AutoimmuneCandidiasisCandida albicansLeishmaniasis, MucocutaneousCandidiasis, OralCandidiasis, VulvovaginalInterleukin-17STAT1 Transcription FactorCandidiasis, InvasivePoint Mutation
STAT1RecurrentCandidaAIREGeneCell-mediatedHypoparathyroidismSyndromeInfectionSystemicFungalAPECEDInfectionsGenesAlopecia areataNull mutationsOropharyngeal candidiasisAdrenalMucousGeneticClinicalEsophagealImmunodeficiencyCMCDSTAT3AntifungalAlbicansOral candidiasisMoniliasisSalmonellaInvasiveFrameshiftAddisonConcomitantSymptomsCellsInflammatory
STAT110
  • Gene sequencing identified mutations in signal transducer and activator of transcription 1 ( STAT1 ), leading to defective immune responses in type 1 and type 17 helper T cells. (medscape.com)
  • The most common mutation causing CMC is a STAT1 gain of function mutation. (logicalimages.com)
  • Patients with STAT1 mutations may also have autoimmune diseases such as thyroid disease, alopecia areata , or type 1 diabetes mellitus . (logicalimages.com)
  • Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. (unideb.hu)
  • All of these mutations affect the coiled-coil domain and impair the nuclear dephosphorylation of activated STAT1, accounting for their gain-of-function and dominance. (unideb.hu)
  • STAT1 gain-of-function (GOF) variants lead to defective Th17 cell development and chronic mucocutaneous candidiasis (CMC), but frequently also to autoimmunity. (kb.se)
  • CMCD results from inborn errors of IL-17 immunity (loss-of- function mutations in IL17F, IL17RA and ACT1, and gain-of-function mutations in STAT1) and DDD from bi-allelic null mutations in CARD9. (institutimagine.org)
  • He was referred to an immunologist for further testing.Genetic testing, including STAT1 gain-of-function and CARD11 mutation was scheduled. (shmabstracts.org)
  • Viral infections, including HSV-1 and VZV, and ophthalmologic findings are rare in AD-HIES but have been documented in autosomal-recessive HIES.4 In AD-HIES, STAT1/CARD11 gain-of-function and STAT3 loss-of-function mutations are most common.5 STAT1 and STAT3 are responsible for activating cytokines and growth factors including Th17. (shmabstracts.org)
  • Det leder bland annat till att barnet växer långsammare än förväntat och Charge \ CHD7 \ Choriodermi \ CHRNB1 \ CHRND \ CHRNE \ Chronic mucocutaneous candidiasis \ STAT1 \ AIRE \ CLCN1 \ Cloustens \ Cloustons syndrom Usher syndrom. (netlify.app)
Recurrent4
  • Chronic mucocutaneous candidiasis (CMC) is a chronic disease, and recurrent and relapsing superficial infections with Candida organisms should be expected. (medscape.com)
  • Recurrent or chronic. (logicalimages.com)
  • Consultation with the patient's physician is warranted if the recurrent candidiasis is the result of prolonged corticosteroid or other immunosuppressant use or from diabetes. (medscape.com)
  • Further investigations revealed that 2 genetic mutations in genes responsible for MBL and IL4 production increase the host susceptibility of getting recurrent candida vulvovaginitis . (wikidoc.org)
Candida9
  • Chronic mucocutaneous candidiasis (CMC) is associated with a defect in cell-mediated immunity that may either be limited to Candida antigens or be part of a more general immune abnormality. (medscape.com)
  • Chronic mucocutaneous candidiasis (CMC) occurs in a heterogeneous group of patients with a wide spectrum of immune dysregulation, ranging from Candida -specific decreased immunity to a broader immune defect. (medscape.com)
  • Chronic mucocutaneous candidiasis, a hereditary immunodeficiency disorder, is persistent or recurring infection with Candida (a fungus) due to malfunction of T cells (a type of white blood cell). (merckmanuals.com)
  • Candidiasis Candidiasis is a fungal infection caused by several species of the yeast Candida , especially Candida albicans . (merckmanuals.com)
  • Thrush Candidiasis is infection with the yeast Candida . (merckmanuals.com)
  • Vaginal Yeast Infection (Candidiasis) A vaginal yeast infection (also called candidiasis) is caused by an infectious organism called Candida , usually Candida albicans . (merckmanuals.com)
  • Persistent Candida infection of the mouth, skin, and nails that is refractory to conventional topical therapy occurs as a distinct syndrome called chronic mucocutaneous candidiasis (CMC). (logicalimages.com)
  • Deregulated production of protective cytokines in response to Candida albicans infection in patients with chronic mucocutaneous candidiasis. (medscape.com)
  • Any condition that compromises cell mediated immunity , worsens the general status of the patient or provide a favorable medium for Candida to form biofilms put the patient at increased risk for having candidiasis. (wikidoc.org)
AIRE12
  • Mutations in the AIRE gene cause autoimmune polyendocrinopathy , candidiasis , and ectodermal dysplasia (APECED), in which CMC is the major infectious feature. (logicalimages.com)
  • APS1 is caused by gene mutations in the autoimmune regulator gene, AIRE , on chromosome 21q22. (dermnetnz.org)
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator ( AIRE) gene. (biomedcentral.com)
  • Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families. (biomedcentral.com)
  • We sequenced the coding regions of the AIRE gene and documented mutations which were further confirmed in respective parents. (biomedcentral.com)
  • Here, we reported two novel mutations in the AIRE gene leading to APECED. (biomedcentral.com)
  • Several mutations in the AIRE gene correlate with development of organ-specific autoimmune diseases with a monogenic autosomal recessive inheritance pattern. (biomedcentral.com)
  • AIRE er ikke en tradisjonell transkripsjonsfaktor som regulerer uttrykket til et begrenset antall gener, men har en overordnet regulatorisk rolle, der AIRE skrur på tusenvis av gener, spesielt de som koder for vevsspesifikke proteiner. (indremedisineren.no)
  • It is caused by mutations in the A uto i mmune re gulator (AIRE) gene, which has been mapped to chromosome 21q22.3. (mhmedical.com)
  • Mutations in the single AIRE gene result in failure of T-cell tolerance. (mhmedical.com)
  • AIRE mutations are responsible for the failure of this process and cause the systemic autoimmune reactions in APECED. (mhmedical.com)
  • APS-1 is caused by a defect in T cell-mediated immunity that is caused by mutations in the autoimmune regulator gene ( AIRE ). (difusireview.com)
Gene10
  • Depending on which gene has the mutation, one or two mutations (one from each parent) may be needed to cause the disorder. (merckmanuals.com)
  • 3] Nearly all patients with NBS are homozygous for the same founder mutation, ie, deletion of 5 bp (657del5) in the NBS1 gene, which encodes the protein nibrin. (medscape.com)
  • Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. (nih.gov)
  • Mutations of the signal transducer and activator of transcription 3 (STAT3) gene were shown to cause the AD HIES by 2 groups independently. (medscape.com)
  • 9] Recent progress in immunological research continues to find other gene mutations that can manifest as overlapping clinical features of HIES (high IgE, allergic symptoms, vulnerability to fungal and bacterial infection). (medscape.com)
  • These gene mutations lead to autoantibodies and cause chronic inflammatory cell infiltrates in the affected organs. (dermnetnz.org)
  • In multiple endocrine neoplasia (MEN) syndromes, specific gene mutations may lead to angiofibromas, lichen amyloidosis, and ganglioneuromas. (amegroups.org)
  • There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation. (ox.ac.uk)
  • The cause of CHARGE is usually a new mutation (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12.2 where the CHD7 gene is located. (netlify.app)
  • This resistance may be acquired through gene mutation. (lookformedical.com)
Cell-mediated1
  • Deficiency of cell-mediated immunity or poor general status are the main risk factors for having opportunistic candidiasis. (wikidoc.org)
Hypoparathyroidism8
  • This condition commonly involves three characteristic features: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland insufficiency. (medlineplus.gov)
  • It is also known as autoimmune polyendocrine syndrome type 1, polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED), Whitaker syndrome, and candidiasis-hypoparathyroidism-Addison disease syndrome, among its many other names. (dermnetnz.org)
  • Mucosal candidiasis, Addison's disease and hypoparathyroidism were the most common clinical manifestations in these patients. (biomedcentral.com)
  • Based on the presence of two of the three major clinical symptoms: (1) hypoparathyroidism (present in almost 80% of patients), (2) adrenocortical failure (in about 70%), and/or (3) chronic mucocutaneous candidiasis. (mhmedical.com)
  • Mucocutaneous candidiasis is most often the first symptom (in 60%) and usually appears between 3 and 5 years of age, but neonatal disease onset with hypoparathyroidism and mucocutaneous candidiasis has been described. (mhmedical.com)
  • More than three-quarters of APECED patients develop chronic hypoparathyroidism that can lead to tetany with carpopedal spasms (Trousseau sign), Chvostek sign, acral paresthesias, laryngospasm, mild encephalopathy, seizures, cataracts, and papilledema. (mhmedical.com)
  • Autoimmune hypoparathyroidism is seen as an isolated defect or as part of polyglandular autoimmune syndrome type I in association with adrenal insufficiency and mucocutaneous candidiasis. (teachmemedicine.org)
  • Mutations affecting intracellular processing of the pre-pro-PTH molecule are also described and lead to hypoparathyroidism, hypocalcemia, or both. (teachmemedicine.org)
Syndrome8
  • [ 1 , 2 ] Patients who lack T-cell immunity (eg, those with severe combined immune deficiency syndrome or DiGeorge syndrome) or patients with severely impaired T-cell function (eg, patients with AIDS) are susceptible to chronic candidal infections. (medscape.com)
  • Omenn syndrome is the result of mutations in the genes coding for recombinases (recombination activating genes). (medscape.com)
  • Ataxialike disorder (ATLD) syndrome involves a mutation in meiotic recombination 11 homolog (MRE11). (medscape.com)
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) [MIM 240300], also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare autosomal-recessive systemic autoimmune disease often appearing early in life, typically in infants at 3-5 years of age [ 1 ]. (biomedcentral.com)
  • The syndrome of Mendelian predisposition to mycobacterial disease (MSMD), severe pediatric tuberculosis, and syndromic forms of mycobacterial disease, due to mutations of IFN-g immunity. (institutimagine.org)
  • Dyslipidaemia Dyslipidaemia could contribute to the progression of chronic kidney illness, significantly in youngsters with nephrotic syndrome. (ehd.org)
  • PDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. (beds.ac.uk)
  • Hypertensive disorders of pregnancy include chronic hypertension, gestational hypertension, preeclampsia/eclampsia, and hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome. (lecturio.com)
Infection3
  • The most common type of candidiasis is a superficial infection of. (merckmanuals.com)
  • Primary infection with C. albicans occurs from acquisition of maternal flora in the perinatal period and is followed by a state of colonization, which evolves into a state of commensalism, except in rare cases of neonatal candidiasis ( 2 ). (rupress.org)
  • In rare cases, candidiasis can spread causing candidaemia and distant infection. (wikidoc.org)
Systemic3
  • Due to local or systemic immunosuppression, this commensal fungus is able to proliferate resulting in oral disease, called oropharyngeal candidiasis (OPC). (frontiersin.org)
  • Patients with an associated endocrinopathy will have systemic symptoms and signs in addition to mucocutaneous manifestations. (logicalimages.com)
  • The disproportionate increase in oropharyngeal candidiasis (OPC) compared with systemic and vaginal candidiasis in female patients with AIDS has been a paradox for almost three decades. (rupress.org)
Fungal4
  • Chronic mucocutaneous candidiasis causes frequent or chronic fungal infections of the mouth, scalp, skin, and nails. (merckmanuals.com)
  • We discovered new recessive etiologies of mycobacterial disease, in patients carrying specific mutations of: 1) ISG15 in patients with mycobacterial disease and auto- immunity, 2) TYK2 in patients with mycobacterial and viral infections, and 3) RORC in patients with mycobacterial and fungal infections. (institutimagine.org)
  • Fungal diseases, such as chronic mucocutaneous candidiasis disease (CMCD) and deep dermaphytosis disease (DDD). (institutimagine.org)
  • Also see Candidiasis , Candidiasis Empiric Therapy , Mucosal Candidiasis , Chronic Mucocutaneous Candidiasis , and Noncandidal Fungal Infections of the Mouth . (medscape.com)
APECED2
  • No racial predilection is reported for chronic mucocutaneous candidiasis (CMC) , although autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is most prevalent in Finnish, Sardinian, and Iranian Jewish populations. (medscape.com)
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. (medlineplus.gov)
Infections6
  • Life expectancy is generally normal but significant morbidity is associated with the chronic nail and mucocutaneous infections and associated endocrine and/or autoimmune disease. (medscape.com)
  • however, the significant morbidity is related to chronic and persistent skin, nail, and mucous membrane candidal infections. (medscape.com)
  • In people with chronic mucocutaneous candidiasis, candidal infections develop and recur or persist, usually beginning during infancy but sometimes during early adulthood. (merckmanuals.com)
  • These infections, which are commonly known as yeast infections, are chronic, which means they recur and can last a long time. (medlineplus.gov)
  • A few other infections were diagnosed, including chronic mucocutaneous candidiasis (n = 3), nocardiosis (n = 2), and klebsiellosis (n = 1). (ox.ac.uk)
  • In patients with chronic granulomatous disease (CGD) or T-cell defects Aspergillus infections may cause erythemato-violaceous or purulent to necrotic nodular lesions. (fidssa.co.za)
Genes1
Alopecia areata1
  • Disruptions of immune regulation result in autoimmune polyglandular syndromes (APS) and associated clinical features including chronic mucocutaneous candidiasis, vitiligo, and alopecia areata. (amegroups.org)
Null mutations1
  • The 1st genetic etiology of MSMD was found in 1996: bi-allelic null mutations of IFNGR1, which encodes the ligand-binding chain of your IFN- receptor (IFN-R1) [65, 66]. (calcium-channel.com)
Oropharyngeal candidiasis1
Adrenal1
  • Crisis may occur in the course of treatment of chronic adrenal insufficiency, or it may be the presenting manifestation of adrenal insufficiency. (difusireview.com)
Mucous1
  • Candidiasis is usually localized to skin and mucous membranes. (wikidoc.org)
Genetic1
  • A variety of genetic mutations in the human papillomavirus (HPV) causes conditions such as papilloma, verruca vulgaris, and condyloma acuminatum. (medscape.com)
Clinical2
  • Clinical practice guidelines for the management of candidiasis: 2009 update by the Infectious Diseases Society of America. (nih.gov)
  • Puzzling clinical features of AD HIES became better understood following identification of STAT3 mutations as a cause of AD HIES. (medscape.com)
Esophageal1
  • Diagnosis and Treatment of Esophageal Candidiasis: Current Updates. (nih.gov)
Immunodeficiency3
  • To diagnose the disorder, doctors examine a sample from the infected area under a microscope and do blood tests to check for the mutations that cause the immunodeficiency. (merckmanuals.com)
  • Immunodeficiency should also be suspected in infants or young children with chronic diarrhea and failure to thrive, especially when the diarrhea is caused by unusual viruses (eg, adenovirus) or fungi (eg, Cryptosporidium). (ferienwohnung-uelsen.de)
  • Candidiasis may be the first sign of an immunodeficiency. (fidssa.co.za)
CMCD1
  • Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. (unideb.hu)
STAT31
  • however, some patients have AD HIES-like disease without STAT3 mutations. (medscape.com)
Antifungal1
  • Mucocutaneous candidiasis is treated with oral antifungal agents , such as fluconazole or itraconazole . (dermnetnz.org)
Albicans1
  • Mouse models of candidiasis, including models of OPC, vaginitis, and disseminated disease, have been invaluable in advancing our understanding of the immune response to C. albicans . (rupress.org)
Oral candidiasis1
  • A number of interesting but relatively untested therapeutic approaches may yet find their way into the management of oral candidiasis. (medscape.com)
Moniliasis1
Salmonella1
  • These sufferers exhibit somewhat restricted gory also consists of a number of defects related to herpes sim- susceptibility to mycobacteria and to extreme salmonella plex encephalitis and continual mucocutaneous candidiasis. (ehd.org)
Invasive4
  • Invasive pneumococcal disease (IPD) due to mutations in the NF-kB pathway. (institutimagine.org)
  • Methods and Results In ISCHEMIA-CKD (International Study of Comparative Health Effectiveness With Medical and Invasive Approaches-Chronic Kidney Disease), 777 participants with advanced CKD and moderate or severe ischemia were randomized to either an initial invasive or conservative management strategy. (escholarship.org)
  • Using multivariable Cox regression analysis, we also sought to identify the effect of invasive versus conservative chronic coronary disease management strategies on dialysis initiation. (escholarship.org)
  • Conclusions In participants with non-dialysis-requiring CKD in ISCHEMIA-CKD, randomization to an invasive chronic coronary disease management strategy (relative to a conservative chronic coronary disease management strategy) is associated with an accelerated time to initiation of maintenance dialysis for kidney failure. (escholarship.org)
Frameshift1
  • 4] Because most patients with NBS are of Slavonic origin, this frameshift mutation came to be called the Slavonic mutation. (medscape.com)
Addison1
  • Addison disease refers to a chronic deficiency of cortisol caused by adrenocortical insufficiency (plasma ACTH and alpha-MSH levels are consequently elevated) causing pigmentation that ranges from none to strikingly dark. (difusireview.com)
Concomitant1
  • Background In participants with concomitant chronic coronary disease and advanced chronic kidney disease (CKD), the effect of treatment strategies on the timing of dialysis initiation is not well characterized. (escholarship.org)
Symptoms1
  • Other early signs and symptoms may include thin enamel on the teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with difficulty in absorbing nutrients from food. (medlineplus.gov)
Cells1
  • Artemis deficiency (with mutations in the Artemis protein resulting in defective VDJ recombination) decreases both T cells and B cells and can be considered part of a subset of SCIDs. (medscape.com)
Inflammatory1
  • Gastrointestinal disorders such as chronic or acute diarrhea, malabsorption, abdominal pain, and inflammatory bowel diseases can indicate immune deficiency. (medscape.com)