Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an InfantReport as inadecuate




Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant - Download this document for free, or read online. Document in PDF available to download.

Case Reports in ImmunologyVolume 2013 2013, Article ID 323614, 5 pages

Case Report

Immunodeficiencies Research Unit, National Institute of Pediatrics, Coyoacan, 04530 Mexico City, DF, Mexico

Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France

French Reference Center for Primary Immune Deficiencies CEREDIH, Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France

Pediatric Immunology-Hematology Unit, Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA

Bioinformatics Laboratory, Pelé Pequeno Principe Research Institute, 80250-060 Curitiba, PR, Brazil

Received 13 May 2013; Accepted 19 June 2013

Academic Editors: V. Lougaris, N. Martinez-Quiles, Y. Nozaki, and A. Vojdani

Copyright © 2013 Saul Oswaldo Lugo Reyes et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Chronic granulomatous disease CGD is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. The case of a 10-month-old boy who died of pneumonia is reported. The isolation of Burkholderia cepacia from his lung, together with a marginally low nitroblue tetrazolium reduction assay NBT, made us suspect and pursue the molecular diagnosis of CGD. A postmortem genetic analysis finally demonstrated CGD caused by a hypomorphic missense mutation with normal gp91

expression. In a patient being investigated for unusually severe or recurrent infection, a high index of suspicion of immunodeficiency must be maintained.





Author: Saul Oswaldo Lugo Reyes, Nizar Mahlaoui, Carolina Prando, Lizbeth Blancas Galicia, Marjorie Hubeau, Stéphane Blanche, Capuc

Source: https://www.hindawi.com/



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