Molecular diagnosis of X-linked chronic granulomatous disease in Iran.
Chronic granulomatous disease (CGD) is an inherited disorder of pathogen killing by phagocytic leukocytes caused by mutations in NADPH oxidase subunits. Patients with CGD have life-threatening bacterial and fungal infections. Children's Medical Center at Tehran University is the referral center for immunodeficiency in Iran. During 2 years of study, 11 non-consanguineous families with clinically diagnosed CGD were referred to this center. In functional assays performed on neutrophils from affected children and their mothers; no activity or strongly decreased oxidase activity was detected in the patients' cells. In oxidase tests that scored this activity on a per-cell basis, a mosaic pattern was detected in the neutrophils from all 11 mothers. Western blot analysis revealed an X91 degrees phenotype in all patients. Mutation screening in the CYBB gene encoding gp91(phox) by SSCP analysis followed by sequencing showed nine different mutations, including two novel mutations. The present survey is the first study aimed to analyze the clinical features and the molecular diagnosis of X-CGD in Iranian patients.
Teimourian
S
S
Laboratory of Molecular Biology Immunology, Asthma and Allergy Research Institute, Medical sciences of Tehran University, Tehran, Iran. teimourian@tums.ac.ir.
Rezvani
Z
Z
Khatam University, Tehran, Iran.
Badalzadeh
M
M
Laboratory of Molecular Biology Immunology, Asthma and Allergy Research Institute, Medical sciences of Tehran University, Tehran, Iran.
Kannengiesser
C
C
Laboratoire de Biochimie, Hôpital Bichat Claude Bernard, Paris, France.
Mansouri
D
D
Department of Infectious Diseases, Masih Danneshvary Hospital, Shahid Beheshty University of Medical Sciences, Tehran, Iran.
Movahedi
M
M
Laboratory of Molecular Biology Immunology, Asthma and Allergy Research Institute, Medical sciences of Tehran University, Tehran, Iran.
Zomorodian
E
E
Laboratory of Molecular Biology Immunology, Asthma and Allergy Research Institute, Medical sciences of Tehran University, Tehran, Iran.
Parvaneh
N
N
Department of Infectious Disease, Children's Hospital Medical Center, Medical sciences of Tehran University, Tehran, Iran.
Mamishi
S
S
Department of Infectious Disease, Children's Hospital Medical Center, Medical sciences of Tehran University, Tehran, Iran.
Pourpak
Z
Z
Laboratory of Molecular Biology Immunology, Asthma and Allergy Research Institute, Medical sciences of Tehran University, Tehran, Iran.
Moin
M
M
Laboratory of Molecular Biology Immunology, Asthma and Allergy Research Institute, Medical sciences of Tehran University, Tehran, Iran.
D002648:Child; D002675:Child, Preschool; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics / Q000378:metabolism; D009504:Neutrophils / Q000378:metabolism
D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases