/hyper-IgM syndrome type 2

hyper-IgM syndrome type 2

Rare Disease

MONDO:0011528

Also Known As

AICDA hyper-IgM syndromeActivation-induced cytidine deaminase deficiencyHIGM2activation-induced cytidine deaminase deficiencyaid deficiencyhyper-IgM syndrome caused by mutation in AICDAhyper-IgM syndrome type 2hyper IgM syndrome 2hyper-IgM syndrome 2immunodeficiency with hyper IgM type 2immunodeficiency with hyper-IgM type 2immunodeficiency with hyper-IgM, type 2

Definition

A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.