| Autor: |
Fattahi, Fatemeh, Badalzadeh, Mohsen, Sedighipour, Leyla, Movahedi, Masoud, Fazlollahi, Mohammad, Mansouri, Seyed, Khotaei, Ghamar, Bemanian, Mohammad, Behmanesh, Fatemeh, Hamidieh, Amir, Bazargan, Nasrin, Mamishi, Setareh, Zandieh, Fariborz, Chavoshzadeh, Zahra, Mohammadzadeh, Iraj, Mahdaviani, Seyed, Tabatabaei, Seyed, Kalantari, Najmeddin, Tajik, Shaghayegh, Maddah, Marzieh |
| Předmět: |
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| Zdroj: |
Journal of Clinical Immunology; Sep2011, Vol. 31 Issue 5, p792-801, 10p |
| Abstrakt: |
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] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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