Intermediate alpha1-antitrypsin deficiency, Pi M-.
A 50-year-old man was found to have 40% of the normal serum alpha1-antitrypsin concentration but subsequent electrofocusing showed a pattern indistinguishable from the ordinary M pattern. This finding and family studies suggested that he was a carrier of a null (-) allele. Heavy smoking and this Pi M- phenotype in interaction probably were responsible for the development of emphysema, documented by an extensive investigation of lung function. Two non-smoking offspring carrying the null allele had normal lung function. Normal karyotypes were found in all the Pi M- subjects.
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008176:Lung Volume Measurements; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency