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Congenital α1-antitrypsin deficiency (AATD) is an autosomal recessive disorder, in Italy it is estimated that 1 in 5000 individuals may suffer from severe AATD. The AATD pathogenesis is directly related to gene mutations, which are highly polymorphic: in fact, more than 120 genetic variants closely associated with specific plasma glycoprotein concentrations have been identified. All the variants have a different clinical significance as they can cause an increase of occurrence of some pathologies such as emphysema, acute or chronic liver disease, cirrhosis, or liver failure. In particular, emphysema affects 54% of patients diagnosed with this deficit. The purpose of our study was to perform a mutational analysis of the AAT gene in order to highlight a genotype-serum correlation of AAT: we found subjects heterozygous for the rare allele PiMProcida and correlated its presence with a marked lowering of serum AAT levels.

Alpha 1 antitrypsin deficiency: a rare allele in patients from south of Italy