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GTR Home > Conditions/Phenotypes > Severe combined immunodeficiency due to CARD11 deficiency

Severe combined immunodeficiency due to CARD11 deficiency

Synonyms
IMMUNODEFICIENCY 11A; Immunodeficiency 11
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-11A 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). [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BENTA, BIMP3, CARMA1, IMD11, IMD11A, PPBL, CARD11
    Summary: caspase recruitment domain family member 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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