title: First Case ofCD40LGDeficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis.
abstract: Severe infections withHistoplasma capsulatumare 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 anindelmutation at theCD40LGgene, 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.
authors.affiliation: 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.
authors.forename: Luis Alberto
authors.initials: LA
authors.lastname: Pedroza
authors.affiliation: Colegio de ciencias de la salud-Hospital de los Valles, Universidad San Francisco de Quito , Quito , Ecuador.
authors.forename: Nina
authors.initials: N
authors.lastname: Guerrero
authors.affiliation: Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
authors.forename: Asbjørg
authors.initials: A
authors.lastname: Stray-Pedersen
authors.affiliation: Hospital Pediátrico Baca Ortiz , Quito , Ecuador.
authors.forename: Cristina
authors.initials: C
authors.lastname: Tafur
authors.affiliation: Hospital Pediátrico Baca Ortiz , Quito , Ecuador.
authors.forename: Roque
authors.initials: R
authors.lastname: Macias
authors.affiliation: Hospital Pediátrico Baca Ortiz , Quito , Ecuador.
authors.forename: Greta
authors.initials: G
authors.lastname: Muñoz
authors.affiliation: Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA.
authors.forename: Zeynep Coban
authors.initials: ZC
authors.lastname: Akdemir
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA.
authors.forename: Shalini N
authors.initials: SN
authors.lastname: Jhangiani
authors.affiliation: 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.
authors.forename: Levi B
authors.initials: LB
authors.lastname: Watkin
authors.affiliation: 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.
authors.forename: Ivan K
authors.initials: IK
authors.lastname: Chinn
authors.affiliation: 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.
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.affiliation: 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.
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange
keywords: CD40LG; histoplasmosis; hyper-IgM syndrome; primary immunodeficiency diseases; whole exome sequencing