Format

Send to

Choose Destination

See 1 citation found by title matching your search:

J Clin Immunol. 2011 Oct;31(5):792-801. doi: 10.1007/s10875-011-9567-x. Epub 2011 Jul 26.

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

Author information

1
Immunology, Asthma and Allergy Research Institute, Children's Medical Center, Tehran University of Medical Sciences, No: 62, Dr. Gharib Street, Keshavarz Blvd, Tehran, 14194, IR, Iran.

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.

PMID:
21789723
DOI:
10.1007/s10875-011-9567-x
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center