immunodeficiency with hyper IgM type 3

Summary
Synonym
  • CD40 deficiency
  • HIGM3
  • hyper-IgM syndrome due to CD40 deficiency
  • type 3 hyper-IgM immunodeficiency
Definition
A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
Super Class
autosomal recessive disease hyper IgM syndrome
External Links
Disease Ontology
DOID:0060023
Mondo Disease Ontology
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1116 CHI3L1 chitinase 3 like 1
2208 FCER2 Fc epsilon receptor II
4360 MRC1 mannose receptor C-type 1
7374 UNG uracil DNA glycosylase
Related Glycoprotein

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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