EBV-induced lymphoproliferative disease due to CTPS1 deficiency
Synonyms: EBV-induced lymphoproliferative disease due to CTP synthase 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EBV-induced lymphoproliferative disease due to CTPS1 deficiency | EBV-induced lymphoproliferative disease due to CTP synthase 1 deficiency |
| fr | Maladie lymphoproliférative associée à l'EBV par déficit en CTPS1 | Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine CTP synthase 1 |
| de | EBV-induzierte lymphoproliferative Krankheit durch CTPS1-Mangel | EBV-induzierte lymphoproliferative Krankheit durch CTP-Synthase-1-Defizienz |
| es | Enfermedad linfoproliferativa inducida por EBV por deficiencia de CTPS1 | Enfermedad linfoproliferativa inducida por EBV por deficiencia de CTP sintasa 1 |
| it | Malattia linfoproliferativa indotta da EBV da deficit di CTPS1 | Malattia linfoproliferativa indotta da EBV da deficit di CTP sintasi 1 |
| nl | EBV-geïnduceerde lymfoproliferatieve ziekte door CTPS1-deficiëntie | EBV-geïnduceerde lymfoproliferatieve ziekte door deficiëntie van CTP-synthase 1 |
| pt | Imunodeficiência combinada grave por deficiência de CTPS1 | SCID por deficiência de CTPS1 |
| pl | Cieżki złożony Niedobór odporności z powodu niedoboru CTPS1 | SCID z powodu niedoboru CTPS1 |
| cs | Těžký kombinovaný imunodeficit způsobený deficitem CTPS1 | SCID způsobená deficitem CTPS1 |
| uk | Тяжкий комбінований імунодефіцит, зумовлений дефіцитом CTPS1 | ТКІД внаслідок дефіциту CTPS1 |
| zh | CTPS1缺陷导致的重症联合免疫缺陷 | CTPS1缺乏导致的SCID |
| tr | CTPS1 eksikliğine bağlı ağır kombine immün yetmezlik | CTPS1 eksikliğine bağlı SCID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615897 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| MONDO | 0014391 | E | validated | |
| UMLS | C4706524 | 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:664456Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
rare genetic diseases; rare immunological diseases - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTPS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2519 | ENSG00000171793 | 123860 | 1p34.2 | CTP synthase 1 | 24870241[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 29942301[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29942301[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/420573
- This record as JSON: /data/d/420573.json