Immunodeficiency 14b, autosomal recessive

Preferred Label : Immunodeficiency 14b, autosomal recessive;

Symbol : IMD14B;

Type : Phenotype, molecular basis known;

Prefixed ID : #619281;

Details

Origin ID

619281;

UMLS CUI

C5543301;

Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, delta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Candida esophagitis [HPO term]
- Childhood onset [HPO term]
- Chronic diarrhea [HPO term]
- Colitis [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Infantile onset [HPO term]
- Inflammation of the large intestine [HPO term]
- Juvenile onset [HPO term]
- Leukocytosis [HPO term]
- Monocytosis [HPO term]
- Neutrophilia [HPO term]
- Polyarticular arthritis [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinusitis [HPO term]
- Reduced natural killer cell activity [HPO term]
- Thrombocytosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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