Combined immunodeficiency due to CRAC channel dysfunction
Synonyms: Immune dysfunction due to T-cell inactivation due to calcium entry defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to CRAC channel dysfunction | Immune dysfunction due to T-cell inactivation due to calcium entry defect |
| fr | Déficit immunitaire combiné par dysfonctionnement du canal CRAC | |
| de | Immundefekt, kombinierter, durch Defekt des CRAC-Kanals | Immundefekt durch T-Zell-Inaktivierung mit Dysfunktion des Kalziumkanals |
| es | Inmunodeficiencia combinada por disfunción en el canal CRAC | Disfunción inmunitaria por la inactivación de células T por un defecto de la entrada de calcio |
| it | Immunodeficienza combinata da disfunzione del canale CRAC | Disfunzione immunitaria dovuta a inattivazione dei linfociti T da difetto di ingestione del calcio |
| nl | Gecombineerde immuundeficiëntie door CRAC-kanaaldisfunctie | Immuundisfunctie door T-celinactivatie door calciuminstroomdefect |
| pt | Imunodeficiência combinada por anomalia do canal CRAC | |
| pl | Złożony Niedobór odporności z powodu dysfunkcji kanałów CRAC | Dysfunkcja odporności z powodu inaktywacji komórek T spowodowanych defektem wejścia wapnia |
| cs | Kombinovaná imunodeficience způsobená dysfunkcí CRAC kanálu | Dysfunkce imunity způsobená inaktivací T-buněk poruchou vápníkového vstupu |
| uk | Комбінований імунодефіцит внаслідок дисфункції CRAC-каналу | Імунна дисфункція через інактивацію Т-клітин внаслідок дефекту входу кальцію |
| zh | CRAC通道功能障碍所致联合免疫缺陷 | 钙通道缺陷导致T细胞失活所致免疫功能障碍 |
| tr | CRAC kanal disfonksiyonuna bağlı kombine immün yetmezlik | Kalsiyum giriş defektine bağlı T hücre inaktivasyonuna bağlı immün disfonksiyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612782 | BTNT | validated | |
| OMIM | 612783 | BTNT | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0015695 | E | validated | |
| UMLS | C4303571 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ORAI1 | ORPHA:317428Combined immunodeficiency due to ORAI1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:25896 | ENSG00000276045 | 610277 | 12q24.31 | ORAI calcium release-activated calcium modulator 1 | |
| STIM1 | ORPHA:317430Combined immunodeficiency due to STIM1 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:11386 | ENSG00000167323 | 605921 | 11p15.4 | stromal interaction molecule 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000705 | Amelogenesis imperfecta | |
| HP:0002960 | Autoimmunity | |
| HP:0000389 | Chronic otitis media | |
| HP:0001945 | Fever | |
| HP:0011084 | Hypocalcification of dental enamel | |
| HP:0007676 | Hypoplasia of the iris | |
| HP:0001252 | Hypotonia | |
| HP:0002721 | Immunodeficiency | |
| HP:0001287 | Meningitis | |
| HP:0003198 | Myopathy | |
| HP:0002090 | Pneumonia | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0002841 | Recurrent fungal infections | |
| HP:0011274 | Recurrent mycobacterial infections | |
| HP:0004429 | Recurrent viral infections | |
| HP:0100806 | Sepsis | |
| Frequent (79-30%) | ||
| HP:0000970 | Anhidrosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0001878 | Hemolytic anemia | |
| HP:0002664 | Neoplasm | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169090
- This record as JSON: /data/d/169090.json