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
External Links
Disease Ontology
DOID:12177
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
912 CD1D CD1d molecule
929 CD14 CD14 molecule
952 CD38 CD38 molecule
1012 CDH13 cadherin 13
1118 CHIT1 chitinase 1
1605 DAG1 dystroglycan 1
2215 FCGR3B Fc gamma receptor IIIb
2220 FCN2 ficolin 2
2524 FUT2 fucosyltransferase 2 (H blood group)
4153 MBL2 mannose binding lectin 2

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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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Last updated: August 19, 2024