Human genes for immunodeficiency 23
Immunodeficiency 23 [DOID:0111953]
A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1.
Synonyms: immunodeficiency 23, DOID:0111953, CID due to PGM3 deficiency, combined immunodeficiency due to PGM3 deficiency, IMD23 ...