EBV-induced lymphoproliferative disease due to CD70 deficiency
Synonyms: Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EBV-induced lymphoproliferative disease due to CD70 deficiency | Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency |
| fr | Maladie lymphoproliférative associée à l'EBV par déficit en CD70 | Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine CD70 molecule |
| de | EBV-induzierte lymphoproliferative Krankheit durch CD70-Mangel | CID durch CD70-Defizienz · CD70-Defekt |
| es | Enfermedad linfoproliferativa inducida por EBV por deficiencia de CD70 | Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia de CD70 |
| it | Malattia linfoproliferativa indotta da EBV da deficit di CD70 | Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit della molecola CD70 |
| nl | EBV-geïnduceerde lymfoproliferatieve ziekte door CD70-deficiëntie | Door Epstein-Barr-virus geïnduceerde lymfoproliferatieve ziekte door deficiëntie van CD70-molecule |
| pt | Imunodeficiência combinada por deficiência de CD70 | |
| pl | Złożony niedobór odporności z powodu deficytu CD70 | = en |
| cs | Závažná kombinovaná imunodeficience způsobená deficitem CD70 | SCID způsobený deficitem CD70 |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом CD70 | КІД через дефіцит CD70 |
| zh | CD70基因缺陷诱导的联合免疫缺陷 | CID due to CD70 deficiency |
| tr | CD70 eksikliğine bağlı kombine immün yetmezlik | CD70 eksikliğine bağlı CID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618261 | E | validated | |
| ICD-10 | D82.3 | NTBT | attributed | validated |
| MONDO | 0034054 | E | validated | |
| MONDO | 34054 | E | validated | |
| UMLS | C5568559 | 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 (3):
- 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 - ORPHA:480549Non-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 |
|---|---|---|---|---|---|---|---|---|
| CD70 | Disease-causing germline mutation(s) in | Assessed | HGNC:11937 | ENSG00000125726 | 602840 | 19p13.3 | CD70 molecule | 28011863[PMID]_28011864[PMID]_29434583[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 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/538958
- This record as JSON: /data/d/538958.json