{"orpha":169090,"name":"Combined immunodeficiency due to CRAC channel dysfunction","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Immune dysfunction due to T-cell inactivation due to calcium entry defect"],"definition":"Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the <i>ORAI1</i> and <i>STIM1</i> genes: CID due to <i>ORAI1</i> deficiency and CID due to <i>STIM1</i> deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169090/","orphanet_url":"https://www.orpha.net/en/disease/detail/169090","names":{"fr":{"name":"Déficit immunitaire combiné par dysfonctionnement du canal CRAC","definition":"Le déficit immunitaire combiné dû à un dysfonctionnement du canal CRAC (canaux calciques) est une forme de déficit immunitaire combiné caractérisée par des infections récurrentes, des troubles autoimmunins, une myopathie congénitale et une dysplasie ectodermique. Il comprend deux sous-types dus à des mutations sur les gènes <i>ORAI1</i> et <i>STIM1</i> : le DIC du à Déficit immunitaire combiné par déficit en ORAI1 et le DIC du à Déficit immunitaire combiné par déficit en STIM1."},"de":{"name":"Immundefekt, kombinierter, durch Defekt des CRAC-Kanals","synonyms":["Immundefekt durch T-Zell-Inaktivierung mit Dysfunktion des Kalziumkanals"],"definition":"Der Kombinierte Immundefekt (CID) mit Dysfunktion des Kalziumkanals CRAC (Ca2+ release activated) ist eine Form des CID. Charakteristisch sind rezidivierende Infektionen, Autoimmunität, kongenitale Myopathie und ektodermale Dysplasie. Zwei Subtypen werden unterschieden: CID mit ORAI1-Mangel und CID mit STIM1-Mangel (s. diese Termini)."},"es":{"name":"Inmunodeficiencia combinada por disfunción en el canal CRAC","synonyms":["Disfunción inmunitaria por la inactivación de células T por un defecto de la entrada de calcio"],"definition":"La inmunodeficiencia combinada (CID) por disfunción en el canal CA2+ (CRAC) activado por liberación de Ca2+ es una forma de CID caracterizada por infecciones recurrentes, autoinmunidad, miopatía congénita y displasia ectodérmica. Incluye dos subtipos causados por mutaciones en los genes <i>ORAI1</i> y <i>STIM1</i>: CID por déficit de <i>ORAI1</i> y CID por déficit de <i>STIM1</i>."},"it":{"name":"Immunodeficienza combinata da disfunzione del canale CRAC","synonyms":["Disfunzione immunitaria dovuta a inattivazione dei linfociti T da difetto di ingestione del calcio"],"definition":"L'immunodeficienza combinata (CID) da disfunzione del canale Ca2+(CRAC) attivato con rilascio di Ca2+ è una forma di CID caratterizzata da infezioni ricorrenti, autoimmunità, miopatia congenita e displasia ectodermica. Comprende due sottotipi, causati dalle mutazioni dei geni <i>ORAI1</i> e <i>STIM1</i>: la CID da deficit di <i>ORAI1</i> e la CID da deficit di <i>STIM1</i> (si vedano questi termini)."},"nl":{"name":"Gecombineerde immuundeficiëntie door CRAC-kanaaldisfunctie","synonyms":["Immuundisfunctie door T-celinactivatie door calciuminstroomdefect"],"definition":"Gecombineerde immuundeficiëntie (CID) door disfunctie van het Ca2+ kanaal CRAC (Ca2+ release activated) is een vorm van CID gekenmerkt door terugkerende infecties, auto-immuniteit, congenitale myopathie en ectodermale dysplasie. Het bestaat uit twee subtypes te wijten aan mutaties in de genen <i>ORAI1</i> en <i>STIM1</i>: CID als gevolg van <i>ORAI1</i>-deficiëntie en CID als gevolg van <i>STIM1</i>-deficiëntie (zie deze termen)."},"pt":{"name":"Imunodeficiência combinada por anomalia do canal CRAC"},"pl":{"name":"Złożony Niedobór odporności z powodu dysfunkcji kanałów CRAC","synonyms":["Dysfunkcja odporności z powodu inaktywacji komórek T spowodowanych defektem wejścia wapnia"]},"cs":{"name":"Kombinovaná imunodeficience způsobená dysfunkcí CRAC kanálu","synonyms":["Dysfunkce imunity způsobená inaktivací T-buněk poruchou vápníkového vstupu"]},"uk":{"name":"Комбінований імунодефіцит внаслідок дисфункції CRAC-каналу","synonyms":["Імунна дисфункція через інактивацію Т-клітин внаслідок дефекту входу кальцію"],"definition":"Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the <i>ORAI1</i> and <i>STIM1</i> genes: CID due to <i>ORAI1</i> deficiency and CID due to <i>STIM1</i> deficiency."},"zh":{"name":"CRAC通道功能障碍所致联合免疫缺陷","synonyms":["钙通道缺陷导致T细胞失活所致免疫功能障碍"],"definition":"Ca2+释放激活Ca2+（CRAC）通道功能障碍所致联合免疫缺陷病（CID）是一种联合免疫缺陷疾病，其主要临床表现为反复感染、自身免疫、先天性肌病和外胚层发育不良，可分为以下2类：ORAI1缺陷所致联合免疫缺陷病，STIM1缺陷所致联合免疫缺陷病。"},"tr":{"name":"CRAC kanal disfonksiyonuna bağlı kombine immün yetmezlik","synonyms":["Kalsiyum giriş defektine bağlı T hücre inaktivasyonuna bağlı immün disfonksiyon"]}},"xrefs":[{"source":"OMIM","code":"612782","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612783","qualifier":"BTNT","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":"1641826886"},{"source":"MONDO","code":"0015695","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[{"orpha":317428,"name":"Combined immunodeficiency due to ORAI1 deficiency","type":"Clinical subtype"},{"orpha":317430,"name":"Combined immunodeficiency due to STIM1 deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":317428,"name":"Combined immunodeficiency due to ORAI1 deficiency"}},{"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"],"via":{"orpha":317430,"name":"Combined immunodeficiency due to STIM1 deficiency"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000705","label":"Amelogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011084","label":"Hypocalcification of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002841","label":"Recurrent fungal infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011274","label":"Recurrent mycobacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000970","label":"Anhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}