Susceptibility to infection due to TYK2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Susceptibility to infection due to TYK2 deficiency | |
| fr | Susceptibilité aux infections par déficit en TYK2 | |
| de | Suszeptibilität für Infektionen durch TYK2-Mangel | Hyper IgE-Syndrom, autosomal-rezessives, durch TYK2-Mangel |
| es | Susceptibilidad a infecciones por deficiencia de TYK2 | |
| it | Suscettibilità alle infezioni da deficit di TYK2 | |
| nl | Susceptibiliteit voor infectie door TYK2-deficiëntie | |
| pt | Susceptibilidade a infeção por deficiência de TYK2 | Síndrome hiper IgE autossómica recessiva por deficiência de TYK2 |
| pl | Podatność na infekcje z powodu niedoboru TYK2 | AR-HIES z powodu niedoboru TYK2 · Zespół AR-hyper IgE z powodu niedoboru TYK2 |
| cs | Náchylnost k infekci způsobená TYK2 deficitem | Autozomálně recesivní hyper-IgE syndrom způsobený TYK2 deficitem |
| uk | Сприйнятливість до інфекцій, зумовлена дефіцитом TYK2 | |
| zh | TYK2基因缺陷所致感染易感 | TYK2基因缺陷所致常染色体隐性IgE增多综合征 |
| tr | TYK2 eksikliğine bağlı enfeksiyona duyarlılık | TYK2 eksikliğine bağlı otozomal çekinik hiper-IgE sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611521 | E | validated | |
| ICD-10 | D82.4 | NTBT | attributed | validated |
| MONDO | 0012682 | E | validated | |
| MeSH | C566928 | E | validated | |
| UMLS | C1969086 | 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:319539Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TYK2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12440 | ENSG00000105397 | 176941 | 19p13.2 | tyrosine kinase 2 | 17088085[PMID]_17521577[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 26304966[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26304966[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/331226
- This record as JSON: /data/d/331226.json