|Title||First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.|
|Publication Type||Journal Article|
|Year of Publication||2017|
|Authors||Pedroza, LAlberto, Guerrero, N, Stray-Pedersen, A, Tafur, C, Macias, R, Muñoz, G, Akdemir, ZCoban, Jhangiani, SN, Watkin, LB, Chinn, IK, Lupski, JR, Orange, JS|
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.
|Alternate Journal||Front Pediatr|
|PubMed Central ID||PMC5300990|