Search Ontology:
Human Disease

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
  • MIM:615816
  • NCI:C126339
  • ORDO:443811
  • SNOMEDCT_US_2023_03_01:1187623009
  • UMLS_CUI:C4014371
Ontology
Human Disease   ( DOID:0111953 )
Relationships
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Genes Involved
Zebrafish Models