ORPHA:391311
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Synonyms: Predisposition to severe viral infection due to STAT1 deficiency · STAT1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Susceptibility to viral and mycobacterial infections due to STAT1 deficiency | Predisposition to severe viral infection due to STAT1 deficiency · STAT1 deficiency |
| fr | Susceptibilité aux infections virales et mycobactériennes par déficit en STAT1 | Déficit en STAT1 · Prédisposition aux infections virales sévères par déficit en STAT1 |
| de | Empfänglichkeit für virale und mykobakterielle Infektionen durch STAT1-Defizienz | Prädisposition für schwere Virusinfektionen aufgrund von STAT1-Mangel · STAT1-Mangel |
| es | Susceptibilidad a infecciones víricas y micobacterianas | Deficiencia de STAT1 |
| it | Suscettibilità alle infezioni virali e micobatteriche | Deficit di STAT1 |
| nl | Susceptibiliteit voor virale en mycobacteriële infecties | STAT1-deficiëntie |
| pt | Suscetibilidade a infeções víricas e micobacterianas por deficiência de STAT1 | |
| pl | Podatność na zakażenia wirusowe i mykobakteryjne | = en |
| cs | Vnímavost k virovým a mykobakteriálním infekcím | STAT1 deficit |
| uk | Сприйнятливість до вірусних та мікобактеріальних інфекцій через дефіцит STAT1 | Схильність до тяжких вірусних інфекцій через дефіцит STAT1 · Дефіцит STAT1 |
| zh | STAT1基因缺陷所致对病毒和分枝杆菌易感 | STAT1缺陷所致对严重病毒感染易感 |
| tr | STAT1 eksikliğine bağlı viral ve mikobakteriyel enfeksiyonlara duyarlılık | STAT1 eksikliği · STAT1 eksikliğine bağlı ağır viral enfeksiyona yatkınlık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613796 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0013427 | E | validated | |
| UMLS | C4755296 | 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 (1):
- ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11362 | ENSG00000115415 | 600555 | 2q32.2 | signal transducer and activator of transcription 1 | 23403048[PMID]_23534974[PMID]_23541320[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/391311
- This record as JSON: /data/d/391311.json