Combined immunodeficiency due to CD3gamma deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare autosomal recessive primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical phenotype is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to CD3gamma deficiency | |
| fr | Déficit immunitaire combiné par déficit en CD3gamma | |
| de | Immundefekt, kombinierter, durch CD3-gamma-Mangel | |
| es | Inmunodeficiencia combinada por deficiencia de CD3gamma | |
| it | Immunodeficienza combinata da deficit di CD3gamma | |
| nl | Gecombineerde immuundeficiëntie door CD3-gamma-deficiëntie | |
| pt | Imunodeficiência combinada por deficiência em CD3 gama | |
| pl | Złożony Niedobór odporności z powodu deficytu CD3gamma | |
| cs | Kombinovaná primární imunodeficience - deficit CD3gama | |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом CD3-гамма-лімфоцитів | |
| zh | CD3gamma 缺乏所致重症联合免疫缺陷 | |
| tr | CD3gamma eksikliğine bağlı kombine immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615607 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0014276 | E | validated | |
| UMLS | C4510864 | 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:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD3G | Disease-causing germline mutation(s) in | Assessed | HGNC:1675 | ENSG00000160654 | 186740 | 11q23.3 | CD3 gamma subunit of T-cell receptor complex |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169082
- This record as JSON: /data/d/169082.json