T-B+NK+ severe combined immunodeficiency due to CD45 deficiency
Synonyms: T-B+NK+ SCID due to CD45 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency due to CD45 deficiency | T-B+NK+ SCID due to CD45 deficiency |
| fr | Déficit immunitaire combiné sévère T-B+NK+ par déficit en CD45 | DICS T-B+NK+ par déficit en CD45 · IDCS T-B+NK+ par déficit en CD45 · Immunodéficience combinée sévère T-B+NK+ par déficit en CD45 · SCID T-B+NK+ par déficit en CD45 |
| de | Immundefekt, kombinierter schwerer, T-B+NK+, durch CD45-Mangel | T-B+NK+ SCID durch CD45-Defizienz |
| es | Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de CD45 | IDCG T-B+NK+ por deficiencia de CD45 · SCID T-B+NK+ por deficiencia de CD45 |
| it | Immunodeficienza combinata grave T-B+NK+ da deficit di CD45 | SCID T-B+NK+ da deficit di CD45 |
| nl | T-B+NK+ ernstige gecombineerde immuundeficiëntie door CD45-deficiëntie | T-B+NK+ SCID door CD45-deficiëntie |
| pt | Imunodeficiência combinada grave T-B+ por deficiência de CD45 | |
| pl | Ciężki złożony Niedobór odporności T-B+ z powodu niedoboru CD45 | T-B+ SCID z powodu niedoboru CD45 |
| cs | T-B+ těžká kombinovaná imunodeficience způsobená deficitem CD45 | T-B+ SCID způsobená deficitem CD45 |
| uk | Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом CD45 | Т-В+ ТКИД внаслідок дефіциту CD45 |
| zh | CD45因子缺乏所致T-B+重症联合免疫缺陷 | CD45缺乏所致T-B+ SCID |
| tr | CD45 eksikliğine bağlı T-B + ağır kombine immün yetmezlik | CD45 eksikliğine bağlı T-B + SCID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619924 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0015702 | E | validated | |
| UMLS | C5679579 | 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 |
|---|---|---|---|---|---|---|---|---|
| PTPRC | Disease-causing germline mutation(s) in | Assessed | HGNC:9666 | ENSG00000081237 | 151460 | 1q31.3-q32.1 | protein tyrosine phosphatase receptor type C | 11145714[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9068311[PMID]_10700239[PMID]_22689986[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 9068311[PMID]_10700239[PMID]_22689986[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/169157
- This record as JSON: /data/d/169157.json