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

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, p47 phox 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. [ABSTRACT FROM AUTHOR]