T-B+NK+ severe combined immunodeficiency due to LAT deficiency
Synonyms: T-B+NK+ SCID due to LAT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency due to LAT deficiency | T-B+NK+ SCID due to LAT deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK+ par déficit en LAT | DICS T-B+NK+ par déficit en LAT · IDCS T-B+NK+ par déficit en LAT · Immunodéficience combinée sévère T-B+NK+ par déficit en LAT |
| de | Immundefekt, kombinierter schwerer, T-B+NK+, LAT-Mangel | T-B+NK+ SCID durch LAT-Defizienz |
| es | Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de LAT | SCID T-B+NK+ por deficiencia de LAT · IDCG T-B+NK+ por deficiencia de LAT |
| it | Immunodeficienza combinata grave T-B+NK+ da deficit di LAT | SCID T-B+NK+ da deficit di LAT |
| nl | T-B+NK+ ernstige gecombineerde immuundeficiëntie door LAT-deficiëntie | T-B+NK+ SCID door LAT-deficiëntie |
| pt | Imunodeficiência combinada grave por deficiência LAT | |
| pl | Ciężki złożony niedobór odporności z powodu niedoboru LAT | = en |
| cs | Těžká kombinovaná imunodeficience způsobená deficitem LAT | SCID způsobená deficitem LAT |
| uk | Тяжкий комбінований імунодефіцит, зумовлений дефіцитом LAT | ТКІД через дефіцит LAT |
| zh | LAT缺失导致严重联合免疫缺陷症 | SCID due to LAT deficiency |
| tr | LAT eksikliğine bağlı ağır kombine immün yetmezlik | LAT eksikliğine bağlı SCID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617514 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | attributed | validated |
| MONDO | 0044721 | E | validated | |
| UMLS | C4479588 | 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 |
|---|---|---|---|---|---|---|---|---|
| LAT | Disease-causing germline mutation(s) in | Assessed | HGNC:18874 | ENSG00000213658 | 602354 | 16p11.2 | linker for activation of T cells | 27522155[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27522155[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27522155[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/504523
- This record as JSON: /data/d/504523.json