SERPINA1 and alpha 1-antitrypsin deficiency: In the index case (III: 4), two heterozygous pathogenic variants were identified in the SERPINA1 gene: SERPINA1, c.1096G > A p. (Glu366Lys) and SERPINA1, c.863A > T p. (Glu288Val) therefore the genetic diagnosis of autosomal recessive alpha-1 antitrypsin deficiency is likely confirmed.