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

被引：93

作者：

Fattahi, Fatemeh ^{[1
,2
]}

Badalzadeh, Mohsen ^{[1
]}

Sedighipour, Leyla ^{[1
]}

Movahedi, Masoud ^{[1
,12
]}

Fazlollahi, Mohammad Reza ^{[1
]}

Mansouri, Seyed Davood ^{[3
]}

Khotaei, Ghamar Taj ^{[4
]}

Bemanian, Mohammad Hassan ^{[5
]}

Behmanesh, Fatemeh ^{[6
]}

Hamidieh, Amir Ali ^{[7
]}

Bazargan, Nasrin ^{[8
]}

Mamishi, Setareh ^{[4
]}

Zandieh, Fariborz ^{[9
]}

Chavoshzadeh, Zahra ^{[10
]}

Mohammadzadeh, Iraj ^{[11
]}

Mahdaviani, Seyed Alireza ^{[3
]}

Tabatabaei, Seyed Ahmad ^{[10
]}

Kalantari, Najmeddin ^{[4
,12
]}

Tajik, Shaghayegh ^{[1
]}

Maddah, Marzieh ^{[1
]}

Pourpak, Zahra ^{[1
,12
]}

Moin, Mostafa ^{[1
,12
]}

机构：

[1] Univ Tehran Med Sci, Childrens Med Ctr, Immunol Asthma & Allergy Res Inst, Tehran 14194, Iran

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Pathol & Med Biol, NL-9713 AV Groningen, Netherlands

[3] Shahid Beheshti Univ Med Sci, Masih Daneshvari Univ Hosp, Natl Res Inst TB & Lung Dis, Tehran, Iran

[4] Univ Tehran Med Sci, Childrens Med Ctr, Dept Infect Dis, Tehran 14194, Iran

[5] Shahid Sadoughi Univ Med Sci, Div Allergy & Immunol, Shahid Sadoughi Hosp, Dept Pediat,Sch Med, Yazd, Iran

[6] Mashhad Univ Med Sci, Ghaem Hosp, Dept Immunol & Allergy, Mashhad, Iran

[7] Univ Tehran Med Sci, Shariati Hosp, Hematol Oncol & Stem Cell Transplantat Res Ctr, Tehran 14194, Iran

[8] Kerman Univ, Dept Pediat, Fac Med, Kerman, Iran

[9] Univ Tehran Med Sci, Bahrami Children Hosp, Dept Asthma Allergy & Immunol, Tehran 14194, Iran

[10] Shaheed Beheshti Univ Med Sci, Mofid Children Hosp, Dept Pediat, Tehran, Iran

[11] Babol Univ Med Sci, Dept Pediat, Sch Med, Babol Sar, Iran

[12] Univ Tehran Med Sci, Childrens Med Ctr, Dept Immunol & Allergy, Tehran 14194, Iran

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2011年 / 31卷 / 05期

关键词：

Autosomal recessive chronic granulomatous disease; X-linked chronic granulomatous disease; consanguinity; Iran; TERM-FOLLOW-UP; DIAGNOSIS; FEATURES; DIHYDRORHODAMINE-123; INFECTIONS;

D O I：

10.1007/s10875-011-9567-x

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：792 / 801

页数：10

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