ORPHA:290839
Autoinflammatory syndrome with immune deficiency
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoinflammatory syndrome with immune deficiency | |
| fr | Syndrome auto-inflammatoire avec déficit immunitaire | Syndrome auto-inflammatoire avec immunodéficience |
| de | Autoinflammatorisches Syndrom mit Immundefekt | |
| es | Síndrome autoinflamatorio con inmunodeficiencia | |
| it | Sindrome autoinfiammatoria con immunodeficienza | |
| nl | Auto-inflammatoir syndroom met immuundeficiëntie | |
| pt | Síndrome auto-inflamatório com imunodeficiência | |
| pl | Zespół autozapalenia z niedoborem odporności | |
| cs | Autozánětlivé syndromy s imunodeficiencí | |
| uk | Аутозапальний синдром з імунодефіцитом | |
| zh | 自体炎症综合征伴有免疫缺陷 | |
| tr | İmmün yetmezliği ile seyreden otoinflamatuar sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17369 | E | validated | |
| UMLS | C5681005 | E | 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:101988Primary immunodeficiency due to a defect in innate immunity
rare genetic diseases; rare immunological diseases
Children (19):
- ORPHA:90340Blau syndrome
- ORPHA:566067CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
- ORPHA:184Cherubism
- ORPHA:404546DITRA
- ORPHA:674762Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
- ORPHA:342Familial Mediterranean fever
- ORPHA:619953Familial hyperinflammatory lymphoproliferative immunodeficiency
- ORPHA:343Hyperimmunoglobulinemia D with periodic fever
- ORPHA:695807Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome
- ORPHA:572428Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
- ORPHA:77297Majeed syndrome
- ORPHA:208650NLRP3-associated autoinflammatory disease
- ORPHA:294023Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
- ORPHA:300359PLCG2-associated antibody deficiency and immune dysregulation
- ORPHA:652522Periodic fever-immunodeficiency-thrombocytopenia syndrome
- ORPHA:619367SAMD9L-associated autoinflammatory syndrome
- ORPHA:210115Sterile multifocal osteomyelitis with periostitis and pustulosis
- ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome
- ORPHA:85453X-linked reticulate pigmentary disorder
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/290839
- This record as JSON: /data/d/290839.json