Combined immunodeficiency due to CD27 deficiency
Synonyms: Autosomal recessive lymphoproliferative disease due to CD27 deficiency · CD27 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to CD27 deficiency | Autosomal recessive lymphoproliferative disease due to CD27 deficiency · CD27 deficiency |
| fr | Déficit immunitaire combiné par déficit en CD27 | Déficit en CD27 · Immunodéficience combinée par déficit en CD27 · Maladie lymphoproliférative autosomique récessive par déficit en CD27 |
| de | Immundefekt, kombinierter, durch CD27-Mangel | CD27-Defizienz · CD27-Mangel · Lymphoproliferative Krankheit, autosomal-rezessive, durch CD27-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de CD27 | Deficiencia de CD27 · Enfermedad linfoproliferativa autosómica recesiva |
| it | Immunodeficienza combinata da deficit di CD27 | Deficit di CD27 |
| nl | Gecombineerde immuundeficiëntie door deficiëntie van CD27 | Autosomaal recessieve lymfoproliferatieve ziekte door deficiëntie van CD27 · CD27-deficiëntie |
| pt | Imunideficiência combinada por deficiência de CD27 | Doença linfoproliferativa autossómica recessiva |
| pl | Autosomalna recesywna choroba limfoproliferacyjna | = en |
| cs | Autozomálně recesivní lymfoproliferativní nemoc | CD27 deficit |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом CD27 | Аутосомно-рецесивне лімфопроліферативне захворювання, зумовлене дефіцитом CD27 · Дефіцит CD27 |
| zh | CD27基因缺陷所致联合免疫缺陷 | CD27缺乏所致常染色体隐性遗传性淋巴组织增生性疾病 |
| tr | CD27 eksikliğine bağlı kombine immün yetmezlik | CD27 eksikliği · CD27 eksikliğine bağlı otozomal çekinik lenfoproliferatif hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615122 | E | validated | |
| ICD-10 | D47.9 | NTBT | attributed | validated |
| UMLS | C3554540 | 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:664734EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature
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 |
|---|---|---|---|---|---|---|---|---|
| CD27 | Disease-causing germline mutation(s) in | Assessed | HGNC:11922 | ENSG00000139193 | 186711 | 12p13.31 | CD27 molecule | 22197273[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 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/238505
- This record as JSON: /data/d/238505.json