First case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with Severe Cutaneous Histoplasmosis

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

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11 Citas (Scopus)

Resumen

Severe infections with Histoplasma capsulatumare 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 indelmutation at the CD40LGgene, 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.

Idioma originalInglés
Número de artículo17
PublicaciónFrontiers in Pediatrics
Volumen5
DOI
EstadoPublicada - 10 feb. 2017

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