Immunodeficiency 11a

Preferred Label : Immunodeficiency 11a;

Symbol : IMD11A;

CISMeF acronym : IMD11A; IMD11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 11; Card11 immunodeficiency; IMD11;

Description : Immunodeficiency-11 is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the caspase recruitment domain-containing protein 11 gene (CARD11, 607210.0003);

Prefixed ID : #615206;

Details

Origin ID

615206;

UMLS CUI

C3554686;

Automatic exact mappings (from CISMeF team)
- CARD11 wt Allele [NCIt concept]
- Severe combined immunodeficiency due to CARD11 deficiency [ORDO Disease]
- immunodeficiency 11A [DO Concept]
DO Cross reference
- immunodeficiency 11A [DO Concept]
Genes related to phenotype
- Caspase recruitment domain-containing protein 11 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to CARD11 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 11A [DO Concept]

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