Details of Disease

General Information of Disease (ID: DISVVXUI)

Disease Name Hyper-IgM syndrome type 3
Synonyms
hyper IgM syndrome 3; immunodeficiency with hyper-IgM, type 3; CD40 deficiency; immunodeficiency with hyper IgM type 3; hyper-IgM syndrome 3; type 3 hyper-IgM immunodeficiency; HIGM3; immunodeficiency with hyper-IgM type 3; hyper-IgM syndrome due to CD40 deficiency; CD40 hyper-IgM syndrome; hyper-IgM syndrome caused by mutation in CD40
Definition A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.
Disease Hierarchy
DISLWPN6: Hyper-IgM syndrome
DISVVXUI: Hyper-IgM syndrome type 3
Disease Identifiers
MONDO ID
MONDO_0011735
MESH ID
D053306
UMLS CUI
C1720957
OMIM ID
606843
MedGen ID
328419
Orphanet ID
101090

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CD40 TT1ERKL moderate Genetic Variation [1]
CD40 TTN6Y9A Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD40 OT5YU2XB Definitive Autosomal recessive [2]
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References

1 Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.Immunogenetics. 2016 Jan;68(1):19-28. doi: 10.1007/s00251-015-0878-6. Epub 2015 Nov 6.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.