Title |
First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis
|
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Published in |
Frontiers in Pediatrics, February 2017
|
DOI | 10.3389/fped.2017.00017 |
Pubmed ID | |
Authors |
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 |
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. |
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Science communicators (journalists, bloggers, editors) | 1 | 33% |
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Mendeley readers
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Unknown | 4 | 25% |