TCR-alpha-beta-positive T-cell deficiency
Synonyms: TCR-alpha-beta+ T-cell deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TCR-alpha-beta-positive T-cell deficiency | TCR-alpha-beta+ T-cell deficiency |
| fr | Déficit en cellules T TCR-alpha-bêta positives | Déficit en cellules T TCR-alpha-bêta+ |
| de | T-Zell-Mangel, TCR-alpha-beta-positiver | TCR-alpha-beta+ T-Zell-Mangel |
| es | Deficiencia de células T TCR-alfa-beta positivas | Deficiencia en células T TCR-alfa-beta+ |
| it | Deficit delle cellule T TCR-alfa-beta-positive | Deficit delle cellule T TCR-alfa-beta+ |
| nl | TCR-alfa-bèta-positieve T-celdeficiëntie | TCR-alfa-bèta+ T-celdeficiëntie |
| pt | Défice de células T, TCR-alfa-beta positivas | |
| pl | Niedobór TCR-alfa-beta pozytywnych komórek T | Niedobór TCR-alfa-beta+ komórek T |
| cs | TCR-alfa-beta-pozitivní T-buněčný deficit | TCR-alfa-beta+ T-buněčný deficit |
| uk | Дефіцит TCR-альфа-бета-позитивних Т-клітин | Дефіцит TCR-альфа-бета+ Т-клітин |
| zh | T细胞受体α/β阳性T细胞缺乏症 | T细胞受体α/β+T细胞缺乏症 |
| tr | TCR-alfa-beta-pozitif T-hücre eksikliği | TCR-alfa-beta + T hücresi eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615387 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | validated |
| MONDO | 0014160 | E | validated | |
| UMLS | C5190592 | 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:718079Combined immunodeficiency with normal B cells and normal immunoglubulins
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:94075Severe immune-mediated enteropathy
rare gastroenterological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRAC | Disease-causing germline mutation(s) in | Assessed | HGNC:12029 | ENSG00000277734 | 186880 | 14q11.2 | T-cell receptor alpha constant | 21206088[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21206088[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21206088[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/397959
- This record as JSON: /data/d/397959.json