ORPHA:700205
Combined immunodeficiency due to IKBKB gain-of-function mutation
Synonyms: CID due to IKBKB GOF mutation · Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to IKBKB gain-of-function mutation | CID due to IKBKB GOF mutation · Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation |
| fr | Déficit immunitaire combiné associé à une mutation gain de fonction d'IKBKB | CID associée à une mutation gain de fonction d'IKBKB · DIC associé à une mutation gain de fonction d'IKBKB · Déficit immunitaire combiné associé à une mutation gain de fonction de la protéine inhibitor of nuclear factor kappa B kinase subunit beta · Immunodéficience combinée associée à une mutation gain de fonction d'IKBKB |
| de | Immundefekt, kombinierter, durch gain-of-function-Mutation im IKBKB-Gen | CID durch IKBKB-GOF-Mutation · Kombinerter Immundefekt durch GOF-Mutation im IKBKB-Gen |
| es | Inmunodeficiencia combinada por mutación de ganancia de función de IKBKB | IDC por mutación GOF de IKBKB · Inmunodeficiencia combinada por mutación de ganancia de función del inhibidor de la subunidad beta de la cinasa del factor nuclear kappa B |
| it | Immunodeficienza combinata da mutazione con guadagno di funzione di IKBKB | CID da mutazione GOF di IKBKB · Immunodeficienza combinata da mutazione con guadagno di funzione della subunità beta dell'inibitore della chinasi del fattore nucleare kappa B |
| nl | Gecombineerde immuundeficiëntie door winstmutatie van IKBKB | CID door IKBKB-winstmutatie · Gecombineerde immuundeficiëntie door winstmutatie van inhibitor van nucleaire factor kappa B kinase subeenheid bèta |
| pt | Combined immunodeficiency due to IKBKB gain-of-function mutation | |
| pl | Combined immunodeficiency due to IKBKB gain-of-function mutation | = en |
| cs | Combined immunodeficiency due to IKBKB gain-of-function mutation | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618204 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | 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:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IKBKB | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:5960 | ENSG00000104365 | 603258 | 8p11.21 | inhibitor of nuclear factor kappa B kinase subunit beta | 30337470[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 30337470[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30337470[PMID]_ORPHANET |
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/700205
- This record as JSON: /data/d/700205.json