Study of alpha1-Antitrypsin Phenotypes Frequencies in Patients with Primary Antibody Deficiency

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 alpha-1-antitrypsin deficiency. in order to determine the prevalence of two common alpha-1-antitrypsindeficiency alleles (pi*z and pi*s) in iranian patients with antibody deficiency, this study wasperformed. the prevalence of pi*m, pi*s, and pi*z allele combinations was determined in 40patients with primary antibody deficiency (with and without bronchiectasis) and compared with60 healthy control subjects. phenotyping was performed by isoelectric focusing. the phenotypefrequencies among patients were as follow: m in 92.5%, s in 2.5% and z in 5%. there was notany significant difference in distribution of alleles or phenotypes between patients and controlsubjects. moreover, no significant difference was found between patients with and withoutbronchiectasis. we did not find evidence to support an association between alpha-1-antitrypsinphenotypes and primary antibody deficiencies in a small, controlled study. larger studies will berequired to clarify the relationship between alpha-1-antitrypsin genotype and susceptibility tobronchiectasis in patients with antibody deficiency.