Imperial College London
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ProfessorIanAdcock

Faculty of Medicine, National Heart & Lung Institute

Professor of Respiratory Cell & Molecular Biology
 
 
 
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Contact

 

+44 (0)20 7594 7840ian.adcock Website

 
 
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Location

 

304Guy Scadding BuildingRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Mortaz:2019:10.1159/000496181,
author = {Mortaz, E and Azempour, E and Mansouri, D and Tabarsi, P and Ghazi, M and Koenderman, L and Roos, D and Adcock, IM},
doi = {10.1159/000496181},
journal = {International Archives of Allergy and Immunology},
pages = {62--73},
title = {Common infections and target organs associated with chronic granulomatous disease in Iran},
url = {http://dx.doi.org/10.1159/000496181},
volume = {179},
year = {2019}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The disease usually manifests within the first years of life with an incidence of 1 in approximately 200,000 live births. The incidence is higher in Iran and Morocco where it reaches 1.5 per 100,000 live births. Mutations have been described in the 5 subunits of NADPH oxidase, mostly in gp91phox and p47phox, with fewer mutations reported in p67phox, p22phox, and p40phox. These mutations cause loss of superoxide production in phagocytic cells. CYBB, the gene encoding the large gp91phox subunit of the transmembrane component cytochrome b558 of the NADPH oxidase complex, is localized on the X-chromosome. Genetic defects in CYBB are responsible for the disease in the majority of male CGD patients. CGD is associated with the development of granulomatous reactions in the skin, lungs, bones, and lymph nodes, and chronic infections may be seen in the liver, gastrointestinal tract, brain, and eyes. There is usually a history of repeated infections, including inflammation of the lymph glands, skin infections, and pneumonia. There may also be a persistent runny nose, inflammation of the skin, and inflammation of the mucous membranes of the mouth. Gastrointestinal problems can also occur, including diarrhea, abdominal pain, and perianal abscesses. Infection of the bones, brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue, and delayed growth are also symptomatic of CGD. The prevention of infectious complications in patients with CGD involves targeted prophylaxis against opportunistic microorganisms such as Staphylococcus aureus, Klebsiella spp., Salmonella spp. and Aspergillus spp. In this review, we provide an update on organ involvement and the association with specific isolated microorganisms in CGD patients.
AU  - Mortaz,E
AU  - Azempour,E
AU  - Mansouri,D
AU  - Tabarsi,P
AU  - Ghazi,M
AU  - Koenderman,L
AU  - Roos,D
AU  - Adcock,IM
DO  - 10.1159/000496181
EP  - 73
PY  - 2019///
SN  - 1018-2438
SP  - 62
TI  - Common infections and target organs associated with chronic granulomatous disease in Iran
T2  - International Archives of Allergy and Immunology
UR  - http://dx.doi.org/10.1159/000496181
UR  - https://www.ncbi.nlm.nih.gov/pubmed/30904913
UR  - http://hdl.handle.net/10044/1/68732
VL  - 179
ER  -
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