Hyper-IgM syndrome type 2
Hyper-IgM syndrome 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.
Also known as Activation-induced cytidine deaminase deficiency, AICDA hyper-IgM syndrome, aid deficiency, HIGM2, hyper-IgM syndrome caused by mutation in AICDA, hyper-IgM syndrome type 2 — per MONDO