common variable immunodeficiency

Summary
Synonym
  • CVID
  • acquired agammaglobulinemia
  • acquired hypogammaglobulinemia
  • common variable agammaglobulinemia
  • sporadic hypogammaglobulinemia
Definition
An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.
Super Class
agammaglobulinemia autoimmune disease autosomal recessive disease
Disease Ontology
DOID:12177
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
4153 MBL2 mannose binding lectin 2
50615 IL21R interleukin 21 receptor
64421 DCLRE1C DNA cross-link repair 1C
Displaying 1 entry
Gene ID Gene Symbol Description Source
54167 Icos inducible T cell co-stimulator

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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