Immunodeficiency with hyper IgM syndrome

Also known as: Hyper-IgM syndrome

Low IgG and IgA with normal or high IgM.

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

Etiology & mechanism

CD40 ligand deficiency.

Gene(s) involved (4)

AICDACD40CD40LGUNG

Symptoms & signs (4)

autoimmunityneutropeniaopportunistic infectionsrecurrent infections

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.