Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant. (21st July 2013)

• Record Type: Journal Article
• Authors: Lugo Reyes, Saul Oswaldo; Mahlaoui, Nizar; Prando, Carolina; Blancas Galicia, Lizbeth; Hubeau, Marjorie; Blanche, Stéphane; Picard, Capucine; Casanova, Jean-Laurent; Bustamante, Jacinta
• Other Names: Lougaris V. Academic Editor.; Martinez-Quiles N. Academic Editor.; Nozaki Y. Academic Editor.; Vojdani A. Academic Editor.
• Is Part Of: Case reports in immunology. Volume 2013(2013)
• Publication Date: 2013-07-21
• Subjects: Immunology -- Periodicals; Immunology -- Case studies -- Periodicals; Immune System Phenomena; Immunology; Immunology; Case studies; Periodicals; 571.96
• DOI: 10.1155/2013/323614
• Languages: English
• ISSNs: 2090-6609

Abstract

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