Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease
Joint Authors
Nino, Gustavo
McSherry, George D.
Gutierrez, Maria J.
Horwitz, Alexandra A.
Ishmael, Faoud T.
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-05
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Chronic granulomatous disease (CGD) is characterized by inherited immune defects resulting from mutations in the NADPH oxidase complex genes.
The X-linked type of CGD is caused by defects in the CYBB gene that encodes gp91-phox, a fundamental component of the NADPH oxidase complex.
This mutation originates the most common and severe form of CGD, which typically has absence of NADPH oxidase function and aggressive multisystemic infections.
We present the case of a 9-year-old child with a rare CYBB mutation that preserves some NADPH oxidase activity, resulting in an atypical mild form of X-linked CGD with isolated lung involvement.
Although the clinical picture and partially preserved oxidase function suggested an autosomal recessive form of CGD, genetic testing demonstrated a mutation in the exon 3 of CYBB gene (c.252 G>A, p.Ala84Ala), an uncommon X-linked CGD variant that affects splicing.
Atypical presentation and diagnostic difficulties are discussed.
This case highlights that the diagnosis of mild forms of X-linked CGD caused by rare CYBB mutations and partially preserved NADPH function should be considered early in the evaluation of atypical and recurrent lung infections.
American Psychological Association (APA)
Gutierrez, Maria J.& McSherry, George D.& Ishmael, Faoud T.& Horwitz, Alexandra A.& Nino, Gustavo. 2012. Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease. Case Reports in Pediatrics،Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-512776
Modern Language Association (MLA)
Gutierrez, Maria J.…[et al.]. Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease. Case Reports in Pediatrics No. 2012 (2012), pp.1-6.
https://search.emarefa.net/detail/BIM-512776
American Medical Association (AMA)
Gutierrez, Maria J.& McSherry, George D.& Ishmael, Faoud T.& Horwitz, Alexandra A.& Nino, Gustavo. Residual NADPH Oxidase Activity and Isolated Lung Involvement in X-Linked Chronic Granulomatous Disease. Case Reports in Pediatrics. 2012. Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-512776
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-512776