T-B+NK+ severe combined immunodeficiency due to CORO1A deficiency
Synonyms: T-B+NK+ SCID due to CORO1A deficiency · T-B+NK+ SCID due to coronin-1A deficiency · T-B+NK+ severe combined immunodeficiency due to coronin-1A deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency due to CORO1A deficiency | T-B+NK+ SCID due to CORO1A deficiency · T-B+NK+ SCID due to coronin-1A deficiency · T-B+NK+ severe combined immunodeficiency due to coronin-1A deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK+ par déficit en CORO1A | DICS T-B+NK+ par déficit en CORO1A · DICS T-B+NK+ par déficit en coronine-1A · Déficit immunitaire combiné sévère T-B+NK+ par déficit en coronine-1A · IDCS T-B+NK+ par déficit en CORO1A · IDCS T-B+NK+ par déficit en coronine-1A · Immunodéficience combinée sévère T-B+NK+ par déficit en CORO1A · Immunodéficience combinée sévère T-B+NK+ par déficit en coronine-1A · SCID T-B+NK+ par déficit en CORO1A · SCID T-B+NK+ par déficit en coronine-1A |
| de | Immundefekt, kombinierter schwerer, T-B+NK+ , durch CORO1A-Mangel | T-B+NK+ SCID durch CORO1A-Defizienz · Immundefekt, kombinierter schwerer, durch Coronin 1A-Defekt |
| es | Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de CORO1A | IDCG T-B+NK+ por deficiencia de CORO1A · IDCG T-B+NK+ por deficiencia de coronina-1A · SCID T-B+NK+ por deficiencia de CORO1A · SCID T-B+NK+ por deficiencia de coronina-1A · Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de coronina-1A |
| it | Immunodeficienza combinata grave T-B+NK+ da deficit di CORO1A | SCID T-B+NK+ da deficit di CORO1A · SCID T-B+NK+ da deficit di coronina-1A · Immunodeficienza combinata grave T-B+NK+ da deficit di coronina-1A |
| nl | T-B+NK+ ernstige gecombineerde immuundeficiëntie door CORO1A-deficiëntie | T-B+NK+ SCID door deficiëntie van coronine-1A · T-B+NK+ ernstige gecombineerde immuundeficiëntie door deficiëntie van coronine-1A · T-B+NK+ SCID door CORO1A-deficiëntie |
| pt | Imunodeficiência combinada grave por deficiência de CORO1A | |
| pl | Ciężki złożony niedobór odporności z powodu niedoboru CORO1A | Ciężki złożony Niedobór odporności z powodu niedoboru koroniny-1A · SCID z powodu koroniny-1A · SCID z powodu niedoboru CORO1A |
| cs | Těžká kombinovaná imunodeficience způsobená deficitem CORO1A | SCID způsobená deficitem CORO1A · SCID způsobená deficitem koronin 1A · Těžká kombinovaná imunodeficience způsobená deficitem koronin 1A |
| uk | Тяжкий комбінований імунодефіцит, спричинений дефіцитом CORO1A | ТКИД через дефіцит CORO1A · ТКИД внаслідок дефіциту короніну-1A · Тяжкий комбінований імунодефіцит внаслідок дефіциту короніну-1А |
| zh | CORO1A基因缺陷所致重症联合免疫缺陷 | 冠蛋白1A缺陷所致重症联合免疫缺陷 |
| tr | CORO1A eksikliğine bağlı ağır kombine immün yetmezlik | CORO1A eksikliğine bağlı SCID · Koronin-1A eksikliğine bağlı SCID · Koronin-1A eksikliğine bağlı ağır kombine immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615401 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0014168 | E | validated | |
| UMLS | C3809383 | 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 (1):
- ORPHA:720280T-B+NK+ severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CORO1A | Disease-causing germline mutation(s) in | Assessed | HGNC:2252 | ENSG00000102879 | 605000 | 16p11.2 | coronin 1A | 23522482[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 29942301[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29942301[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228003
- This record as JSON: /data/d/228003.json