Term Name: | immunodeficiency 23 |
---|---|
Synonyms: | CID due to PGM3 deficiency, combined immunodeficiency due to PGM3 deficiency, IMD23, PGM3-CDG, PGM3-related congenital disorder of glycosylation |
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. |
Ontology: | Human Disease [DOID:0111953] ( DOID:0111953 ) |