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ABSTRACT
Alpha 1 -antitrypsin [AAT] belongs to the family of serpins [serine protease inhibitors]. Loop sheet polymerization is the pathology behind serpinopathies which encompasses AAT, anti-thrombin III and neuroserpin deficiency. To the best of our knowledge, we report the first case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis without any concomitant use of drugs
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Index: IMEMR (Eastern Mediterranean) Main subject: Phenotype / Serine Proteinase Inhibitors / Point Mutation / Alpha 1-Antitrypsin Deficiency / Pulmonary Disease, Chronic Obstructive / Agammaglobulinemia / Genotype Type of study: Case report Limits: Female / Humans Language: English Journal: Ann. Thorac. Med. Year: 2014

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Index: IMEMR (Eastern Mediterranean) Main subject: Phenotype / Serine Proteinase Inhibitors / Point Mutation / Alpha 1-Antitrypsin Deficiency / Pulmonary Disease, Chronic Obstructive / Agammaglobulinemia / Genotype Type of study: Case report Limits: Female / Humans Language: English Journal: Ann. Thorac. Med. Year: 2014