NDLI: Inheritance Pattern and Clinical Aspects of 93 Iranian Patients with Chronic Granulomatous Disease

Content Provider	Springer Nature Link
Author	Fattahi, Fatemeh Badalzadeh, Mohsen Sedighipour, Leyla Movahedi, Masoud Fazlollahi, Mohammad Reza Mansouri, Seyed Davood Khotaei, Ghamar Taj Bemanian, Mohammad Hassan Behmanesh, Fatemeh Hamidieh, Amir Ali Bazargan, Nasrin Mamishi, Setareh Zandieh, Fariborz Chavoshzadeh, Zahra Mohammadzadeh, Iraj Mahdaviani, Seyed Alireza Tabatabaei, Seyed Ahmad Kalantari, Najmeddin Tajik, Shaghayegh Maddah, Marzieh Pourpak, Zahra Moin, Mostafa
Copyright Year	2011
Abstract	Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran.Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families.Most of the patients were AR-CGD (87.1%). This was related to consanguineous marriages (p = 0.001). The age of onset of symptoms and diagnosis were lower in XL-CGD compared with AR-CGD (p < 0.0001 for both). Among AR-CGD patients, p47phox defect was the predominant subtype (55.5%). The most common clinical features in patients were lymphadenopathy (65.6%) and pulmonary involvement (57%). XL-CGD patients were affected more frequently with severe infectious manifestations.Although XL-CGD is the most common type of the disease worldwide, only 12 patients (12.9%) were XL-CGD in our study. The relatively high frequency of AR-CGD is probable due to widely common consanguineous marriages in Iran.
Starting Page	792
Ending Page	801
Page Count	10
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	31
Issue Number	5
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2011-07-26
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Autosomal recessive chronic granulomatous disease X-linked chronic granulomatous disease consanguinity Iran Medical Microbiology Immunology Internal Medicine Infectious Diseases
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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