Autoinflammatory syndrome, familial, with or without immunodeficiency

Preferred Label : Autoinflammatory syndrome, familial, with or without immunodeficiency;

Symbol : AISIMD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619375;

Details

Origin ID

619375;

UMLS CUI

C5543547;

Genes related to phenotype
- Suppressor of cytokine signaling 1 [OMIM gene]
HPO term(s)
- Anti-U1 ribonucleoprotein antibody positivity [HPO term]
- Anti-dsDNA antibody positivity [HPO term]
- Antinuclear antibody positivity [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Celiac disease [HPO term]
- Childhood onset [HPO term]
- Coombs-positive hemolytic anemia [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Decreased proportion of marginal zone B cells [HPO term]
- Glomerulonephritis [HPO term]
- Hepatomegaly [HPO term]
- Hodgkin lymphoma [HPO term]
- Juvenile onset [HPO term]
- Lymphadenopathy [HPO term]
- Middle age onset [HPO term]
- Recurrent respiratory infections [HPO term]
- Splenomegaly [HPO term]
- Spondylitis [HPO term]
- Systemic lupus erythematosus [HPO term]
- Thyroiditis [HPO term]
- Young adult onset [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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