ORPHA:317425
T-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiency
Synonyms: T-B-NK+ SCID due to DNA-PKcs deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiency | T-B-NK+ SCID due to DNA-PKcs deficiency |
| fr | Déficit immunitaire combiné sévère T-B-NK+ par déficit en DNA-PKcs | DICS T-B-NK+ par déficit en DNA-PKcs · IDCS T-B-NK+ par déficit en DNA-PKcs · Immunodéficience combinée sévère T-B-NK+ par déficit en DNA-PKcs · SCID T-B-NK+ par déficit en DNA-PKcs |
| de | Immundefekt, kombinierter schwerer, T-B-NK+, durch DNA-PKcs-Mangel | T-B-NK+ SCID durch DNA-PKcs-Defizienz |
| es | Inmunodeficiencia combinada grave T-B-NK+ por deficiencia de DNA-PKcs | IDCG T-B-NK+ por deficiencia de DNA-PKcs · SCID T-B-NK+ por deficiencia de DNA-PKcs |
| it | Immunodeficienza combinata grave T-B-NK+ da deficit di DNA-PKcs | SCID T-B-NK+ da deficit di DNA-PKcs |
| nl | T-B-NK+ ernstige gecombineerde immuundeficiëntie door DNA-PKcs-deficiëntie | T-B-NK+ SCID door DNA-PKcs-deficiëntie |
| pt | Imunodeficiência combinada grave por deficiência de ADN-PKcs | SCID por deficiência de ADN-PKcs |
| pl | Ciężki złożony Niedobór odporności z powodu deficytu DNA-PKcs | SCID z powodu niedoboru DNA-PKcs |
| cs | Těžká kombinovaná imunodeficience způsobená deficitem DNA-PKcs | SCID způsobená deficitem DNA-PKcs (DNA dependentní protein kináza - katalytická podjednotka) |
| uk | Тяжкий комбінований імунодефіцит, зумовлений дефіцитом ДНК-PKcs | ТКІД внаслідок дефіциту ДНК-PKcs |
| zh | DNA-PKcs缺陷所致重症联合免疫缺陷 | DNA-PKcs缺陷所致SCID |
| tr | DNA-PKcs eksikliğine bağlı ağır kombine immün yetmezlik | DNA-PKcs eksikliğine bağlı SCID |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615966 | E | validated | |
| ICD-10 | D81.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0014423 | E | validated | |
| UMLS | C4274221 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:720308T-B-NK+ severe combined immunodeficiency with microcephaly
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKDC | Disease-causing germline mutation(s) in | Assessed | HGNC:9413 | ENSG00000253729 | 600899 | 8q11.21 | protein kinase, DNA-activated, catalytic subunit | 19823081[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19075392[PMID]_23722905[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19075392[PMID]_23722905[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/317425
- This record as JSON: /data/d/317425.json