Combined immunodeficiency due to STK4 deficiency
Synonyms: CID due to STK4 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to STK4 deficiency | CID due to STK4 deficiency |
| fr | Déficit immunitaire combiné par déficit en STK4 | DIC par déficit en STK4 |
| de | Immundefekt, kombinierter, durch STK4-Mangel | CID durch STK4-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de STK4 | CID por deficiencia de STK4 |
| it | Immunodeficienza combinata da deficit di STK4 | CID da deficit di STK4 |
| nl | Gecombineerde immuundeficiëntie door STK4-deficiëntie | CID door STK4-deficiëntie |
| pt | Imunodeficiência combinada devido à deficiência de STK4 | CID devido à deficiência de STK4 |
| pl | Złożony Niedobór odporności z powodu deficytu STK4 | CID z powodu niedoboru STK4 |
| cs | Kombinovaná imunodeficience způsobená deficitem STK4 | CID způsobená deficitem STK4 |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом STK4 | КІД через дефіцит STK4 |
| zh | STK4基因缺陷所致联合免疫缺陷 | STK4基因缺陷所致CID |
| tr | STK4 eksikliğine bağlı kombine immün yetmezlik | STK4 eksikliğine bağlı CID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614868 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0013934 | E | validated | |
| UMLS | C4749922 | 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 (2):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:718053Combined immunodeficiency with low CD4 and normal CD8
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 |
|---|---|---|---|---|---|---|---|---|
| STK4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11408 | ENSG00000101109 | 604965 | 20q13.12 | serine/threonine kinase 4 | 22294732[PMID]_22174160[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 22294732[PMID]_22174160[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314689
- This record as JSON: /data/d/314689.json