Author/Authors :
Fazlollahi, Mohammad Reza Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Aghamohammadi, Asghar Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Farid Hosseini, Reza Department of Allergy and Clinical Immunology - Mashhad University of Medical Sciences, Mashhad , Sahebghadam Lotfi, Abbas Department of Clinical Biochemistry - Tarbiat Modarres University, Tehran , Khoshdel, Alireza Department of Clinical Biochemistry - Tarbiat Modarres University, Tehran , Farhoudi, Abolhassan Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Movahedi, Masoud Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Gharagozlou, Mohammad Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Mozaffari, Habibeh Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Zandieh, Fariborz Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Mansouri, Mahboubeh Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran , Ghaffari, Javad Department of Pediatrics - Mazandaran University of Medical Sciences, Sari , Rezaei, Nima Department of Allergy and Clinical Immunology - Children Hospital Medical Center - Tehran University of Medical Sciences, Tehran
Abstract :
Primary antibody deficiencies are the most frequent primary immunodeficiency disorders.
Bronchiectasis as a feature of these disorders may be developed due to some factors such α-1-
antitrypsin deficiency. In order to determine the prevalence of two common α-1-antitrypsin
deficiency alleles (PI*Z and PI*S) in Iranian patients with antibody deficiency, this study was
performed. The prevalence of PI*M, PI*S, and PI*Z allele combinations was determined in 40
patients with primary antibody deficiency (with and without bronchiectasis) and compared with
60 healthy control subjects. Phenotyping was performed by isoelectric focusing. The phenotype
frequencies among patients were as follow: M in 92.5%, S in 2.5% and Z in 5%. There was not
any significant difference in distribution of alleles or phenotypes between patients and control
subjects. Moreover, no significant difference was found between patients with and without
bronchiectasis. We did not find evidence to support an association between α-1-antitrypsin
phenotypes and primary antibody deficiencies in a small, controlled study. Larger studies will be
required to clarify the relationship between α-1-antitrypsin genotype and susceptibility to
bronchiectasis in patients with antibody deficiency.
Keywords :
Allele , Alpha-1-Antitrypsin , Antibody Deficiency , Bronchiectasis
