AUTHOR=Pedroza Luis Alberto , Guerrero Nina , Stray-Pedersen Asbjørg , Tafur Cristina , Macias Roque , Muñoz Greta , Akdemir Zeynep Coban , Jhangiani Shalini N. , Watkin Levi B. , Chinn Ivan K. , Lupski James R. , Orange Jordan S. 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=5

YEAR=2017

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2017.00017

DOI=10.3389/fped.2017.00017

ISSN=2296-2360

ABSTRACT=<p>Severe infections with <italic>Histoplasma capsulatum</italic> 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 <italic>indel</italic> mutation at the <italic>CD40LG</italic> 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.</p>