First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
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ABSTRACT:
SUBMITTER: Pedroza LA
PROVIDER: S-EPMC5300990 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Publications
First Case of <i>CD40LG</i> Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
Pedroza Luis Alberto LA Guerrero Nina N Stray-Pedersen Asbjørg A Tafur Cristina C Macias Roque R Muñoz Greta G Akdemir Zeynep Coban ZC Jhangiani Shalini N SN Watkin Levi B LB Chinn Ivan K IK Lupski James R JR Orange Jordan S JS
Frontiers in pediatrics 20170210
Severe infections with <i>Histoplasma capsulatum</i> are commonly observed in patient with secondary immunodeficiency disorders. We report a two and a half years old boy previously healthy with disseminated cutaneous histoplasmosis. Using whole exome sequencing, we found an <i>indel</i> mutation at the <i>CD40LG</i> gene, suggesting a diagnosis of hyper-IgM (HIGM) syndrome, even in the absence of the usual features for the disease. Interestingly, the patient lives in a region endemic for histopl ...[more]
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