{"orpha":317430,"name":"Combined immunodeficiency due to STIM1 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CID due to STIM1 deficiency"],"definition":"Combined immunodeficiency (CID) due to <i>STIM1</i> deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-317430/","orphanet_url":"https://www.orpha.net/en/disease/detail/317430","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en STIM1","synonyms":["CID par déficit en STIM1","DIC par déficit en STIM1","Immunodéficience combinée par déficit en STIM1"],"definition":"Le déficit immunitaire combiné (DIC) par déficit en <i>STIM1</i> est une forme de DIC par dysfonctionnement du canal CRAC (canal calcique activé par la libération de calcium), caractérisée par des infections récurrentes, une auto-immunité, une myopathie congénitale et une dysplasie ectodermique."},"de":{"name":"Immundefekt, kombinierter, durch STIM1-Mangel","synonyms":["CID durch STIM1-Mangel"],"definition":"Der kombinierte Immunodefekt (CID) durch STIM1-Mangel ist eine Form des CID aufgrund einer Fehlfunktion des durch Kalziumfreisetzung aktivierten Ca2+ (CRAC)-Kanals (siehe dort). Kennzeichnend sind rezidivierende Infektionen, Autoimmunität, kongenitale Myopathie und ektodermale Dysplasie."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de STIM1","synonyms":["CID por deficiencia de STIM1"],"definition":"La inmunodeficiencia combinada (CID) por déficit de <i>STIM1</i> es una forma de CID debida a una disfunción canales de Ca2+ activados por liberación de calcio (CRAC), caracterizada por infecciones recurrentes, autoinmunidad, miopatía congénita y displasia ectodérmica."},"it":{"name":"Immunodeficienza combinata da deficit di STIM1","synonyms":["CID da deficit di STIM1"],"definition":"L'immunodeficienza combinata (CID) da deficit di <i>STIM1</i> è una forma di CID da disfunzione del canale attivato per il rilascio del calcio Ca2+ (CRAC); è caratterizzata da infezioni ricorrenti, autoimmunità, miopatia congenita e displasia ectodermica."},"nl":{"name":"Gecombineerde immuundeficiëntie door STIM1-deficiëntie","synonyms":["CID door STIM1-deficiëntie"],"definition":"Een vorm van gecombineerde immuundeficiëntie door disfunctie van calciumafgifte-geactiveerd calciumkanaal (CRAC), gekenmerkt door recidiverende infecties, auto-immuniteit, congenitale myopathie, en ectodermale dysplasie."},"pt":{"name":"Imunodeficiência combinada devido à deficiência de STMI1","synonyms":["CID devido à deficiência de STIM1"]},"pl":{"name":"Złożony Niedobór odporności z powodu deficytu STIM1","synonyms":["CID z powodu deficytu STIM1"]},"cs":{"name":"Kombinovaná imunodeficience způsobená deficitem STIM1","synonyms":["CID způsobená deficitem STIM1"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом STIM1","synonyms":["КІД через дефіцит STIM1"],"definition":"Combined immunodeficiency (CID) due to <i>STIM1</i> deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."},"zh":{"name":"STIM1基因缺陷所致联合免疫缺陷","synonyms":["SIM1基因缺陷所致CID"],"definition":"STIM1 缺陷引起的联合免疫缺陷（CID）是一种由钙释放激活钙通道（CRAC）引起的CID，其特征是反复感染，自身免疫，先天性肌病和外胚层发育不良。"},"tr":{"name":"STIM1 eksikliğine bağlı kombine immün yetmezlik","synonyms":["STIM1 eksikliğine bağlı CID"]}},"xrefs":[{"source":"OMIM","code":"612783","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"8644198"},{"source":"MONDO","code":"0013008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748557","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10523","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169090,"name":"Combined immunodeficiency due to CRAC channel dysfunction","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"STIM1","name":"stromal interaction molecule 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11386","ensembl":"ENSG00000167323","omim":"605921","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}