Human genes for immunodeficiency 11A
Immunodeficiency 11A [DOID:0111957]
A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2.
Synonyms: immunodeficiency 11A, DOID:0111957, CARD11 deficiency, IMD11A, SCID due to CARD11 deficiency ...