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First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.

ABSTRACT: Severe infections with Histoplasma capsulatum 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 indel mutation at the CD40LG 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 histoplasmosis. The unusual infections in our case suggest that in children with severe histoplasmosis and resident in endemic areas, HIGM syndrome should be considered as a diagnosis.

SUBMITTER: Pedroza LA

PROVIDER: S-EPMC5300990 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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First Case of CD40LG 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 Histoplasma capsulatum 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 indel mutation at the CD40LG 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]

PMID: 28239602

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