Hyper-IgM syndrome

rare

A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.

Identifiers: MONDO:0003947
Part of: Hyperimmunoglobulin syndrome
Also known as: immunodeficiency with hyper-IgM

Subtypes

All diseases Rare only

Disease	ID	Genes
Hyper-IgM syndrome type 1	MONDO:0010626	CD40LG
Hyper-IgM syndrome type 2	MONDO:0011528	AICDA
Hyper-IgM syndrome type 3	MONDO:0011735	CD40
Hyper-IgM syndrome type 4	MONDO:0011985
Hyper-IgM syndrome type 5	MONDO:0011971	UNG

Rare disease

Projects

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