Last update 01 Nov 2024

Hyper-IgM Immunodeficiency Syndrome

Basic Info

Synonyms
AID deficiency, Activation-induced cytidine deaminase deficiency, CD40 Deficiency
+ [79]
Introduction
A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.

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