{"orpha":35078,"name":"T-B+NK- severe combined immunodeficiency due to JAK3 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-B+NK- SCID due to JAK3 deficiency"],"definition":"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35078/","orphanet_url":"https://www.orpha.net/en/disease/detail/35078","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK- par déficit en JAK3","synonyms":["DICS T-B+NK- par déficit en JAK3","ICDS T-B+NK- par déficit en JAK3","Immunodéficience combinée sévère T-B+NK- par déficit en JAK3","SCID T-B+NK- par déficit en JAK3"],"definition":"Le déficit immunitaire combiné sévère (DICS) T-B+ par déficit en JAK3 est un DICS caractérisé par des infections sévères et récurrentes associées à une diarrhée et un retard de croissance staturo-pondérale."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B+NK-, durch JAK3-Mangel","synonyms":["T-B+NK- SCID durch JAK3-Defizienz","SCID durch JAK3-Defekt"],"definition":"Der kombinierte schwere Immundefekt (SCID) T-B+ mit JAK3-Mangel, eine Form des SCID (siehe dort), ist gekennzeichnet durch schwere und rezidivierende Infektionen, in Verbindung mit Diarrhöe und Gedeihstörung."},"es":{"name":"Inmunodeficiencia combinada grave T-B+NK- por deficiencia de JAK3","synonyms":["SCID T-B+NK- por deficiencia de JAK3","IDCG T-B+NK- por deficiencia de JAK3"],"definition":"La inmunodeficiencia combinada grave (IDCG) T- B+ por déficit de JAK3 es una forma de IDCG (consulte este término), caracterizada por infecciones graves y recurrentes, asociadas a diarrea y retraso en el crecimiento."},"it":{"name":"Immunodeficienza combinata grave T-B+ da deficit di JAK3","synonyms":["SCID T-B+ da deficit di JAK3"],"definition":"L'immunodeficienza combinata grave (SCID) T-B+ da deficit di JAK3 è una forma di SCID (si veda questo termine) caratterizzata da infezioni gravi e ricorrenti, associate a diarrea e ritardo della crescita."},"nl":{"name":"T-B+NK- ernstige gecombineerde immuundeficiëntie door JAK3-deficiëntie","synonyms":["T-B+NK- SCID door JAK3-deficiëntie"],"definition":"Ernstige gecombineerde immuundeficiëntie (SCID) T-B+ als gevolg van JAK3-deficiëntie is een vorm van SCID (zie deze term) die wordt gekarakteriseerd door ernstige en weerkerende infecties, geassocieerd met diarree en groeiachterstand."},"pt":{"name":"Imunodeficiência combinada grave T-B+ por deficiência de JAK3","definition":"A imunodeficiência combinada grave (SCID) T-B+ devido à deficiência de JAK3 é uma forma de SCID caracterizada por infeções graves e recorrentes, associadas a diarreia e atraso de crescimento."},"pl":{"name":"Ciężki złożony Niedobór odporności T-B+ z powodu niedoboru JAK3","synonyms":["T-B+ SCID z powodu niedoboru JAK3"]},"cs":{"name":"Těžká kombinovaná imunodeficience T-B+ způsobená deficitem JAK3","synonyms":["T-B+ SCID způsobený deficitem JAK3"]},"uk":{"name":"Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом JAK3","synonyms":["Т-В+ ТКІД через дефіцит JAK3"],"definition":"Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."},"zh":{"name":"JAK3缺乏所致重症T-B+免疫缺陷","synonyms":["JAK3缺乏所致T-B+SCID"]},"tr":{"name":"JAK3 eksikliğine bağlı T-B + ağır kombine immün yetmezlik","synonyms":["JAK3 eksikliği nedeniyle T-B + SCID"]}},"xrefs":[{"source":"OMIM","code":"600802","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1845332026"},{"source":"MONDO","code":"0010938","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720287,"name":"T-B+NK- severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"JAK3","name":"Janus kinase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6193","ensembl":"ENSG00000105639","omim":"600173","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-21","source":"26769277[PMID]_11668610[PMID]_14615376[PMID]_30778343[PMID]","terms":[{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003347","label":"Impaired lymphocyte transformation with phytohemagglutinin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005354","label":"Lack of T cell function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040219","label":"Absent natural killer cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005390","label":"Recurrent opportunistic infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000371","label":"Acute otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010976","label":"Decreased total B cell count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011837","label":"Partial IgA deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004798","label":"Recurrent infection of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very rare (<4-1%)","criteria":null}]}}