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Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant
Joint Authors
Prando, Carolina
Blanche, Stéphane
Bustamante, Jacinta
Picard, Capucine
Hubeau, Marjorie
Mahlaoui, Nizar
Casanova, Jean-Laurent
Blancas Galicia, Lizbeth
Lugo Reyes, Saul Oswaldo
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-21
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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 gp91phox expression.
In a patient being investigated for unusually severe or recurrent infection, a high index of suspicion of immunodeficiency must be maintained.
American Psychological Association (APA)
Lugo Reyes, Saul Oswaldo& Mahlaoui, Nizar& Prando, Carolina& Blancas Galicia, Lizbeth& Hubeau, Marjorie& Blanche, Stéphane…[et al.]. 2013. Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant. Case Reports in Immunology،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-463459
Modern Language Association (MLA)
Lugo Reyes, Saul Oswaldo…[et al.]. Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant. Case Reports in Immunology No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-463459
American Medical Association (AMA)
Lugo Reyes, Saul Oswaldo& Mahlaoui, Nizar& Prando, Carolina& Blancas Galicia, Lizbeth& Hubeau, Marjorie& Blanche, Stéphane…[et al.]. Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant. Case Reports in Immunology. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-463459
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-463459