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

Autor: Mohammad Reza Fazlollahi, Leyla Sedighipour, Mohsen Badalzadeh, Marzieh Maddah, Ghamar Taj Khotaei, Iraj Mohammadzadeh, Fatemeh Fattahi, Zahra Chavoshzadeh, Fatemeh Behmanesh, Mostafa Moin, Masoud Movahedi, Nasrin Bazargan, Zahra Pourpak, Mohammad Hassan Bemanian, S D Mansouri, Shaghayegh Tajik, Seyed Alireza Mahdaviani, Setareh Mamishi, Seyed Ahmad Tabatabaei, Najmeddin Kalantari, Fariborz Zandieh, Amir Ali Hamidieh
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Male
FEATURES
DNA Mutational Analysis
Iran
Granulomatous Disease
Chronic
FAMILIES
Medical microbiology
Chronic granulomatous disease
immune system diseases
Genes
X-Linked
Risk Factors
hemic and lymphatic diseases
Immunology and Allergy
Medicine
Autosomal recessive chronic granulomatous disease
Age of Onset
Child
Respiratory Tract Infections
Immunodeficiency
Respiratory tract infections
Middle Aged
Lymphatic disease
INFECTIONS
Child
Preschool
Female
Adult
medicine.medical_specialty
congenital
hereditary
and neonatal diseases and abnormalities
Adolescent
GENETICS
Immunology
Genes
Recessive
Consanguinity
DIAGNOSIS
consanguinity
Humans
In patient
Lymphatic Diseases
TERM-FOLLOW-UP
JAPAN
business.industry
Infant
NADPH Oxidases
medicine.disease
Dermatology
DIHYDRORHODAMINE-123
REGISTRY
EXPERIENCE
Age of onset
business
X-linked chronic granulomatous disease
Zdroj: Journal of Clinical Immunology, 31(5), 792-801. SPRINGER/PLENUM PUBLISHERS
ISSN: 0271-9142
DOI: 10.1007/s10875-011-9567-x
Popis: 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 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.
Databáze: OpenAIRE
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