Combined immunodeficiency due to IKBKB deficiency
Synonyms: CID due to IKBKB deficiency · Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to IKBKB deficiency | CID due to IKBKB deficiency · Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency |
| fr | Déficit immunitaire combiné par déficit en IKBKB | Déficit immunitaire combiné par déficit en protéine inhibitor of nuclear factor kappa B subunit beta · Immunodéficience combinée par déficit en IKBKB · CID par déficit en IKBKB · DIC par déficit en IKBKB |
| de | Immundefekt, kombinierter, durch IKK2-Mangel | CID durch IKK2-Defizienz · Kombinierter Immundefekt durch I-kappa-B-Kinase 2-Defizienz |
| es | Inmunodeficiencia combinada por deficiencia de IKK2 | IDC por deficiencia de IKBKB · Inmunodeficiencia combinada por deficiencia del inhibidor de la subunidad beta del factor nuclear kappa B |
| it | Immunodeficienza combinata grave da deficit di IKK2 | SCID da deficit di IKK2 |
| nl | Gecombineerde immuundeficiëntie door IKBKB-deficiëntie | CID door IKBKB-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van inhibitor van nucleaire factor kappa B subeenheid bèta |
| pt | Imunodeficiência combinada devido à deficiência de IKBKB | CID devido a deficiência IKBKB · Imunodeficiência combinada devido à deficiência da subunidade beta do inibidor do fator nuclear kappa B |
| pl | Ciężki złożony Niedobór odporności z powodu deficytu IKK2 | DICS z niedoborem IKK2 · SCID z powodu niedoboru IKK2 · Złożony niedobór odporności spowodowany niedoborem IKK2 |
| cs | Těžká kombinovaná imunodeficience způsobená deficitem IKK2 | SCID způsobená deficitem IKK2 |
| uk | Тяжкий комбінований імунодефіцит, зумовлений дефіцитом IKK2 | ТКІД внаслідок дефіциту IKK2 |
| zh | IKK2基因缺陷所致重症联合免疫缺陷 | IKK2基因缺陷所致SCID |
| tr | IKK2 eksikliğine bağlı ağır kombine immün yetmezlik | IKK2 eksikliğine bağlı SCID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615592 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0014267 | E | validated | |
| UMLS | C5190593 | 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 (1):
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
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 |
|---|---|---|---|---|---|---|---|---|
| IKBKB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5960 | ENSG00000104365 | 603258 | 8p11.21 | inhibitor of nuclear factor kappa B kinase subunit beta | 24369075[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 25139357[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25139357[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/397787
- This record as JSON: /data/d/397787.json