OBO ID: DOID:0111953
Term Name: immunodeficiency 23 Search Ontology:
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 PGM3 on chromosome 6q14.1. (2)
References:
  • GARD:4331
  • NCI:C126339
  • OMIM:615816
  • ORDO:443811
  • UMLS_CUI:C4014371
Ontology: Human Disease   (DOID:0111953)
OTHER immunodeficiency 23 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PGM3 Immunodeficiency 23 615816
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None