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Front Pediatr. 2017 Feb 10;5:17. doi: 10.3389/fped.2017.00017. eCollection 2017.

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

Author information

1
Colegio de ciencias de la salud-Hospital de los Valles, Universidad San Francisco de Quito, Quito, Ecuador; Instituto de Microbiología, Universidad San Francisco de Quito, Quito, Ecuador.
2
Colegio de ciencias de la salud-Hospital de los Valles, Universidad San Francisco de Quito , Quito , Ecuador.
3
Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
4
Hospital Pediátrico Baca Ortiz , Quito , Ecuador.
5
Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA.
6
Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA.
7
Center for Human Immunobiology, Texas Children's Hospital, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
8
Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston TX, USA.

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.

KEYWORDS:

CD40LG; histoplasmosis; hyper-IgM syndrome; primary immunodeficiency diseases; whole exome sequencing

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