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

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 gen...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300990/
https://www.ncbi.nlm.nih.gov/pubmed/28239602
http://dx.doi.org/10.3389/fped.2017.00017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300990/
https://www.ncbi.nlm.nih.gov/pubmed/28239602
http://dx.doi.org/10.3389/fped.2017.00017

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