Alpha1-Antitrypsin Deficiency and Emphysema Caused by Homozygous Inheritance of Non-Expressing Alpha1-Antitrypsin Genes

Robert I. Garver, Jean Francois Mornex, Toshihiro Nukiwa, Mark Brantly, Michael Courtney, Jean Pierre Lecocq, Ronald Crystal

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EMPHYSEMA is a chronic disorder of the lower respiratory tract characterized by enlargement of the air space distal to the terminal bronchioles resulting from destruction of the alveolar walls.1,2 In the United States and Europe, approximately 2 percent of cases of emphysema are associated with a hereditary deficiency of α1-antitrypsin,3 4 5 6 a 52-kd glycoprotein produced by hepatocytes and, to a lesser extent, mononuclear phagocytes.7 8 9 10 11 12 13 14 15 16 17 The single gene coding for α1-antitrypsin is contained within a 10-kb segment of DNA composed of five exons on chromosome 14.18–20 The two parental alleles are codominantly expressed, and the α1-antitrypsin.

Original languageEnglish
Pages (from-to)762-766
Number of pages5
JournalNew England Journal of Medicine
Issue number12
Publication statusPublished - 20 Mar 1986
Externally publishedYes


ASJC Scopus subject areas

  • Medicine(all)

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