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Definition

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.

Acronym

IMD11A

Synonyms

CARD11 immunodeficiency
IMD11
Immunodeficiency 11