immunodeficiency 23 (DOID:0111953)
Alliance: disease page
Synonyms: CID due to PGM3 deficiency; combined immunodeficiency due to PGM3 deficiency; IMD23; PGM3-CDG; PGM3-related congenital disorder of glycosylation
Alt IDs: OMIM:615816, NCI:C126339, ORDO:443811, UMLS_CUI:C4014371
Definition: 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 the PGM3 gene on chromosome 6q14.1.