{"orpha":317428,"name":"Combined immunodeficiency due to ORAI1 deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CID due to ORAI1 deficiency"],"definition":"Combined immunodeficiency (CID) due to <i>ORAI1</i> deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-317428/","orphanet_url":"https://www.orpha.net/en/disease/detail/317428","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en ORAI1","synonyms":["CID par déficit en ORAI1","DIC par déficit en ORAI1","Immunodéficience combinée par déficit en ORAI1"],"definition":"Le déficit immunitaire combiné (DIC) par déficit en <i>ORAI1</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 myopathie congénitale, une dysplasie ectodermique et une anhidrose."},"de":{"name":"Immundefekt, kombinierter, durch ORAI1-Mangel","synonyms":["CID durch ORAI1-Mangel"],"definition":"Der kombinierte Immundefekt (CID) durch ORAI1-Mangel ist eine Form des CID mit Fehlfunktion/Mangel des durch Kalziumfreisetzung aktivierten Ca2+-Kanals (CRAC) ORAI1. Kennzeichnende Symptome sind rezidivierende Infektionen, kongenitale Myopathie, ektodermale Dysplasie und Anhidrose."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de ORAI1","synonyms":["CID por deficiencia de ORAI1"],"definition":"La inmunodeficiencia combinada (CID) por déficit de <i>ORAI1</i> es una forma de CID debida a una disfunción de los canales de Ca2+ activados por liberación de calcio (CRAC), que se caracteriza por infecciones recurrentes, miopatía congénita, displasia ectodérmica y anhidrosis."},"it":{"name":"Immunodeficienza combinata da deficit di ORAI1","synonyms":["CID da deficit di ORAI1"],"definition":"L'immunodeficienza combinata (CID) da deficit di <i>ORAI1</i> è una forma di CID dovuta a una disfunzione del canale attivato per il rilascio del calcio Ca2+ (CRAC); è caratterizzata da infezioni ricorrenti, miopatia congenita, displasia ectodermica e anidrosi."},"nl":{"name":"Gecombineerde immuundeficiëntie door ORAI1-deficiëntie","synonyms":["CID door ORAI1-deficiëntie"],"definition":"Een vorm van gecombineerde immuundeficiëntie door disfunctie van calciumafgifte-geactiveerd calciumkanaal (CRAC), gekenmerkt door recidiverende infecties, congenitale myopathie, ectodermale dysplasie, en anhidrose."},"pt":{"name":"Imunodeficiência combinada devido à deficiência de ORAI1","synonyms":["CID devido à deficiência de ORAI1"]},"pl":{"name":"Złożony Niedobór odporności z powodu deficytu ORAI1","synonyms":["CID z powodu niedoboru ORAI1"]},"cs":{"name":"Kombinovaná imunodeficience způsobená ORAI1 deficitem","synonyms":["CID způsobená ORAI1 deficitem"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом ORAI1","synonyms":["КІД через дефіцит ORAI1"],"definition":"Combined immunodeficiency (CID) due to <i>ORAI1</i> deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."},"zh":{"name":"ORAI1基因缺陷所致联合免疫缺陷","synonyms":["ORAI1基因缺陷所致CID"],"definition":"ORAI1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、先天性肌病、外胚层发育不良和脱水。"},"tr":{"name":"ORAI1 eksikliğine bağlı kombine immün yetmezlik","synonyms":["ORAI1 eksikliğine bağlı CID"]}},"xrefs":[{"source":"OMIM","code":"612782","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":"677672007"},{"source":"MONDO","code":"0013007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748568","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10524","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]}],"children":[],"genes":[{"symbol":"ORAI1","name":"ORAI calcium release-activated calcium modulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25896","ensembl":"ENSG00000276045","omim":"610277","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"20004786[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20004786[PMID]"}],"phenotypes":null}