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First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis
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 gen...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300990/ https://www.ncbi.nlm.nih.gov/pubmed/28239602 http://dx.doi.org/10.3389/fped.2017.00017 |
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author | Pedroza, Luis Alberto Guerrero, Nina Stray-Pedersen, Asbjørg Tafur, Cristina Macias, Roque Muñoz, Greta Akdemir, Zeynep Coban Jhangiani, Shalini N. Watkin, Levi B. Chinn, Ivan K. Lupski, James R. Orange, Jordan S. |
author_facet | Pedroza, Luis Alberto Guerrero, Nina Stray-Pedersen, Asbjørg Tafur, Cristina Macias, Roque Muñoz, Greta Akdemir, Zeynep Coban Jhangiani, Shalini N. Watkin, Levi B. Chinn, Ivan K. Lupski, James R. Orange, Jordan S. |
author_sort | Pedroza, Luis Alberto |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5300990 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-53009902017-02-24 First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis Pedroza, Luis Alberto Guerrero, Nina Stray-Pedersen, Asbjørg Tafur, Cristina Macias, Roque Muñoz, Greta Akdemir, Zeynep Coban Jhangiani, Shalini N. Watkin, Levi B. Chinn, Ivan K. Lupski, James R. Orange, Jordan S. Front Pediatr Pediatrics 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. Frontiers Media S.A. 2017-02-10 /pmc/articles/PMC5300990/ /pubmed/28239602 http://dx.doi.org/10.3389/fped.2017.00017 Text en Copyright © 2017 Pedroza, Guerrero, Stray-Pedersen, Tafur, Macias, Muñoz, Akdemir, Jhangiani, Watkin, Chinn, Lupski and Orange. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Pedroza, Luis Alberto Guerrero, Nina Stray-Pedersen, Asbjørg Tafur, Cristina Macias, Roque Muñoz, Greta Akdemir, Zeynep Coban Jhangiani, Shalini N. Watkin, Levi B. Chinn, Ivan K. Lupski, James R. Orange, Jordan S. First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis |
title | First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis |
title_full | First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis |
title_fullStr | First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis |
title_full_unstemmed | First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis |
title_short | First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis |
title_sort | first case of cd40lg deficiency in ecuador, diagnosed after whole exome sequencing in a patient with severe cutaneous histoplasmosis |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5300990/ https://www.ncbi.nlm.nih.gov/pubmed/28239602 http://dx.doi.org/10.3389/fped.2017.00017 |
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