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Annals of Thoracic Medicine. 2014; 9 (1): 39-41
in English | IMEMR | ID: emr-139569

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


Subject(s)
Humans , Female , Agammaglobulinemia , Pulmonary Disease, Chronic Obstructive/etiology , alpha 1-Antitrypsin Deficiency/diagnosis , Point Mutation , alpha 1-Antitrypsin Deficiency/drug therapy , Serine Proteinase Inhibitors , Genotype , Phenotype
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