Immunodeficiency 81

Preferred Label : Immunodeficiency 81;

Symbol : IMD81;

Type : Phenotype, molecular basis known;

Prefixed ID : #619374;

Origin ID

619374;

UMLS CUI

C5543540;

Genes related to phenotype
- Lymphocyte cytosolic protein 2 [OMIM gene]
HPO term(s)
- Abnormally low T cell receptor excision circle level [HPO term]
- Abscess [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased proportion of CD4-positive T cells [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Immunodeficiency [HPO term]
- Impaired collagen-induced platelet aggregation [HPO term]
- Impaired neutrophil chemotaxis [HPO term]
- Petechiae [HPO term]
- Recurrent cutaneous abscess formation [HPO term]
- Recurrent infections [HPO term]
- Reduced antigen-specific T cell proliferation [HPO term]
- Reduced natural killer cell activity [HPO term]
- Reduced reactive oxygen species production in neutrophils [HPO term]
- Skin rash [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]