@article {370,
	title = {First Case of  Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.},
	journal = {Front Pediatr},
	volume = {5},
	year = {2017},
	month = {2017},
	pages = {17},
	abstract = {<p>Severe infections with  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  mutation at the  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>},
	issn = {2296-2360},
	doi = {10.3389/fped.2017.00017},
	author = {Pedroza, Luis Alberto and Guerrero, Nina and Stray-Pedersen, Asbj{\o}rg and Tafur, Cristina and Macias, Roque and Mu{\~n}oz, Greta and Akdemir, Zeynep Coban and Jhangiani, Shalini N and Watkin, Levi B and Chinn, Ivan K and Lupski, James R and Orange, Jordan S}
}
