Hyper-IgM syndrome

Also known as: CD40 ligand deficiency

Immunodeficiency with elevated IgM and low IgG, IgA, IgE.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric immunology
Sex & age distribution: Male: affected, X-linked; Female: affected, autosomal; Children: yes, infancy
Gene(s) involved: AICDA, CD40, CD40LG, UNG

Etiology & mechanism

Defective class switching.

Gene(s) involved (4)

AICDACD40CD40LGUNG

Symptoms & signs (5)

autoimmunitylymphoid hyperplasianeutropeniapneumocystis pneumoniarecurrent infections

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