Chronic Granulomatous Disease: An unreported mutation

Melody O Kiat; Sté; phanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante; Maria Beatriz P Gepte; Jaime A Santos

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Chronic Granulomatous Disease: An unreported mutation

Author: Melody O. Kiat ¹ ; Stéphanie Boisson-Dupuis ² ; Jean-Laurent Casanova ³ ; Jacinta Bustamante ⁴ ; Maria Beatriz P. Gepte ⁵ ; Jaime A. Santos ¹
Author Information

1. Section of Pediatric Infectious Diseases, Philippine Childrens Medical Center, Philippines
2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, NY, USA;Paris Descartes University, Paris, France
3. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, NY, USA;Paris Descartes University, Paris, France;Howard Hughes Medical Institute, NY, USA;Pediatric Hematology-Immunology Unit, Assistance Publique-Hopitaux de Paris APHP, Necker Hospital for Sick Children, Paris, France
4. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Necker Hospital for Sick Children, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, NY, USA;Paris Descartes University, Paris, France;Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hopitaux de Paris AP-HP, Necker Hospital for Sick Children, Paris, France, EU
5. Cancer and Hematology Center, Philippine Childrens Medical Center, Philippines
Publication Type:Journal Article
Keywords: Recurrent bacterial infections
MeSH: Granulomatous Disease
From: Pediatric Infectious Disease Society of the Philippines Journal 2017;18(1):45-53
CountryPhilippines
Language:English
Abstract: Chronic Granulomatous Disease (CGD) is caused by defects in the phagocyte NADPH oxidase and occurs in approximately 1:200,000 births worldwide. It presents with early onset of severe recurrent bacterial and fungal infections. This is a case of a 9-year old male with severe, recurrent bacterial infections since 3 weeks of age. Initial Nitroblue tetrazolium (NBT) reduction tests were normal but a DNA analysis revealed a previously unreported homozygous mutation in CYBB, p.S418Y. Dihydrorhodamine (DHR) test showed poor neutrophil oxidation consistent with X-linked CGD. Definitive microbiologic diagnosis is essential for directing therapy for recurrent bacterial and fungal infections. Treatment of infections should be aggressive. Lifelong bacterial and fungal prophylaxis is necessary for prolonged survival. We report a case of confirmed CGD with the previously unreported mutation.
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