Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease - PubMed (original) (raw)

. 2011 Oct;31(5):792-801.

doi: 10.1007/s10875-011-9567-x. Epub 2011 Jul 26.

Mohsen Badalzadeh, Leyla Sedighipour, Masoud Movahedi, Mohammad Reza Fazlollahi, Seyed Davood Mansouri, Ghamar Taj Khotaei, Mohammad Hassan Bemanian, Fatemeh Behmanesh, Amir Ali Hamidieh, Nasrin Bazargan, Setareh Mamishi, Fariborz Zandieh, Zahra Chavoshzadeh, Iraj Mohammadzadeh, Seyed Alireza Mahdaviani, Seyed Ahmad Tabatabaei, Najmeddin Kalantari, Shaghayegh Tajik, Marzieh Maddah, Zahra Pourpak, Mostafa Moin

Affiliations

• PMID: 21789723
• DOI: 10.1007/s10875-011-9567-x

Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease

Fatemeh Fattahi et al. J Clin Immunol. 2011 Oct.

Abstract

Background: 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.

Methods: Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families.

Results: 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.

Conclusions: 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.

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