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Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.

PMID: 33060515 (view PubMed database entry)
DOI: 10.1097/inf.0000000000002945 (read at publisher's website )

Athipat Athipongarporn, Chupong Ittiwut, Wiparat Manuyakorn, Surapat Assawawiroonhakarn, Noppadol Larbcharoensub, Vorasuk Shotelersuk,

X-linked hyper IgM (X-HIGM) syndrome is a combined immunodeficiency disease caused by mutations in the CD40LG gene, leading to a defect in immunoglobulin (Ig) class switching recombination and effector T-cell responses. X-HIGM patients usually present in early life with pyogenic bacterial and opportunistic infections. Herein, we report a previously healthy 13-year-old Thai boy who first presented with cutaneous and meningoencephalitis cryptococcosis. Whole-exome sequencing revealed that he was hemizygous for a missense c.514T>C (p.Tyr172His) in CD40LG, confirming a diagnosis of X-HIGM. This report demonstrates that X-HIGM could have an age of onset in teens and systemic cryptococcosis could be its presenting symptoms.

Pediatr Infect Dis J (The Pediatric infectious disease journal)
[2021, 40(1):e18-e20]

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