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
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
2212 FCGR2A Fc gamma receptor IIa
3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
4153 MBL2 mannose binding lectin 2
4791 NFKB2 nuclear factor kappa B subunit 2
5175 PECAM1 platelet and endothelial cell adhesion molecule 1
29851 ICOS inducible T cell costimulator
50615 IL21R interleukin 21 receptor
64421 DCLRE1C DNA cross-link repair 1C
Displaying all 7 entries
Gene ID Gene Symbol Description Source
14130 Fcgr2b Fc receptor, IgG, low affinity IIb
14131 Fcgr3 Fc receptor, IgG, low affinity III
14961 H2-Ab1 histocompatibility 2, class II antigen A, beta 1
17195 Mbl2 mannose-binding lectin (protein C) 2
18613 Pecam1 platelet/endothelial cell adhesion molecule 1
54167 Icos inducible T cell co-stimulator
60504 Il21r interleukin 21 receptor
Displaying all 5 entries
Gene ID Gene Symbol Description Source
29583 Pecam1 platelet and endothelial cell adhesion molecule 1
64545 Icos inducible T-cell co-stimulator
116591 Fcgr2a Fc gamma receptor 2A
289211 Fcgr2b Fc gamma receptor 2B
498276 Fcgr2al1 Fc gamma receptor 2A like 1

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Last updated: December 9, 2024