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PMID: 18509647 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Review

Genetics and immunopathology of chronic granulomatous disease.

Seminars in immunopathology ·Vol. 30 ·No. 3 ·2008-07-00 ·Pages 209-35

Stasia MJ, Li XJ

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency syndrome characterized by a greatly increased susceptibility to severe fungal and bacterial infections. CGD results from a failure of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in the patient's phagocytes to produce superoxide. It is caused by mutations in any of four genes that encode the components of the NADPH oxidase. Investigation of CGD patients has identified the different subunits and the genes encoding them. Study of rare CGD variants has highlighted sequences involved in the structural stability of affected components or has provided valuable insights into their function in the oxidase activation mechanism. Functional and molecular CGD diagnosis tests are discussed in this review. Long-term antibiotic prophylaxis has been essential in fighting infections associated with CGD, but approaches based on hematopoietic stem cell transplantation and gene therapy offer great hope for the near future.

MeSH Terms
Granulomatous Disease, Chronic/genetics,immunology,pathology Humans NADPH Oxidases/genetics,immunology
Chemicals
NADPH Oxidases
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Stasia Marie José
Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique, Laboratoire TIMC/IMAG UMR CNRS 5525, Université J Fourier, CHU 38043 Grenoble, France. MJStasia@chu-grenoble.fr
Li Xing Jun
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Article Info
Journal
Seminars in immunopathology
Abbr.
Semin Immunopathol
ISSN
1863-2297
DOI
10.1007/s00281-008-0121-8
Email
mjstasia@chu-grenoble.fr
Published
2008-07-00
Epub
2008-00-29
Pages
209-35
Language
English
Region
Germany
NLM ID
101308769
Subset
IM
Grants
NIAID NIH HHS · N01-AI30070 · United States
Corrections
CommentIn
PMID: 18592238
External Links
PubMed source DOI: 10.1007/s00281-008-0121-8 View journal details
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