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

TitleFirst Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
Publication TypeJournal Article
Year of Publication2017
AuthorsPedroza, LAlberto, Guerrero, N, Stray-Pedersen, A, Tafur, C, Macias, R, Muñoz, G, Akdemir, ZCoban, Jhangiani, SN, Watkin, LB, Chinn, IK, Lupski, JR, Orange, JS
JournalFront Pediatr
Volume5
Pagination17
Date Published2017
ISSN2296-2360
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.

DOI10.3389/fped.2017.00017
Alternate JournalFront Pediatr
PubMed ID28239602
PubMed Central IDPMC5300990
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States