immunodeficiency 23

Term ID

DOID:0111953

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. (2)

References

• GARD:4331
• NCI:C126339
• OMIM:615816
• ORDO:443811
• SNOMEDCT_US_2023_03_01:1187623009
• UMLS_CUI:C4014371

Ontology

Human Disease   ( DOID:0111953 )