ORPHA:431149
Combined immunodeficiency due to OX40 deficiency
Synonyms: Combined immunodeficiency with childhood-onset Kaposi sarcoma · Combined immunodeficiency with impaired immunity to HHV-8 · Combined immunodeficiency with impaired immunity to human herpes virus 8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to OX40 deficiency | Combined immunodeficiency with childhood-onset Kaposi sarcoma · Combined immunodeficiency with impaired immunity to HHV-8 · Combined immunodeficiency with impaired immunity to human herpes virus 8 |
| fr | Déficit immunitaire combiné par déficit en OX40 | Déficit immunitaire combiné associé à l'HHV-8 · Déficit immunitaire combiné associé à l'herpèsvirus humain 8 · Déficit immunitaire combiné associé à une sarcome de Kaposi de l'enfant |
| de | Immundefekt, kombinierter, durch OX40-Mangel | Immundefekt, kombinierter, mit Kaposi-Sarkom mit Beginn im Kindesalter · Immundefekt, kombinierter, mit gestörter Immunität durch HHV-8 · Immundefekt, kombinierter, mit gestörter Immunität durch humanes Herpes 8 Virus |
| es | Inmunodeficiencia combinada por deficiencia de OX40 | Inmunodeficiencia combinada con alteración de la inmunidad al VHH-8 · Inmunodeficiencia combinada con alteración de la inmunidad al virus del herpes humano 8 · Inmunodeficiencia combinada con alteración de la inmunidad por HHV-8 · Inmunodeficiencia combinada con alteración de la inmunidad por el virus del herpes humano 8 · Inmunodeficiencia combinada con sarcoma de Kaposi de inicio en la infancia |
| it | Immunodeficienza combinata da deficit di OX40 | Immunodeficienza combinata con alterazione dell'immunità da HHV-8 · Immunodeficienza combinata con alterazione dell'immunità da herpes virus umano 8 · Immunodeficienza combinata con sarcoma di Kaposi a esordio infantile |
| nl | Gecombineerde immuundeficiëntie door OX40-deficiëntie | Gecombineerde immuundeficiëntie met in de kindertijd optredend Kaposi-sarcoom · Gecombineerde immuundeficiëntie met verstoorde immuniteit tegen HHV-8 · Gecombineerde immuundeficiëntie met verstoorde immuniteit tegen humaan herpesvirus 8 |
| pt | Imunodeficiência combinada por deficiência de OX40 | |
| pl | Złożony Niedobór odporności spowodowany niedoborem OX40 | Złożony Niedobór odporności z mięsakiem Kaposiego o poczatku w wieku dziecięcym · Złożony Niedobór odporności z upośledzoną odpornością na HHV-8 · Złożony Niedobór odporności z upośledzoną odpornością na ludzki herpes wirus 8 en |
| cs | Kombinovaný imunodeficit způsobená deficitem OX40 | Kombinovaná imunodeficience s Kaposiho sarkomem vznikajícím v dětství · Kombinovaná imunodeficience s poruchou imunity vůči HHV-8 · Kombinovaná imunodeficience s poruchou imunity vůči lidskému herpes viru 8 |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом OX40 | Комбінований імунодефіцит з дитячою саркомою Капоші · Комбінований імунодефіцит зі зниженим імунітетом до HHV-8 · Комбінований імунодефіцит зі зниженим імунітетом до вірусу герпесу людини 8 |
| zh | OX40缺乏所致联合免疫缺陷 | 联合免疫缺陷合并对人疱疹病毒-8免疫力下降 |
| tr | OX40 eksikliğine bağlı kombine immün yetmezlik | HHV-8'e bozulmuş bağışıklık ile seyreden kombine immün yetmezlik · Çocukluk çağı başlangıçlı Kaposi sarkomu ile seyreden kombine immün yetmezlik · İnsan herpes virüsüne karşı bozulmuş bağışıklık 8 ile seyreden kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615593 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0014268 | E | validated | |
| UMLS | C4707864 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:718079Combined immunodeficiency with normal B cells and normal immunoglubulins
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11918 | ENSG00000186827 | 600315 | 1p36.33 | TNF receptor superfamily member 4 | 23897980[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 23897980[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23897980[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.
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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/431149
- This record as JSON: /data/d/431149.json