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Since the first description of alpha one antitrypsin deficiency (AATD) by Laurell and Eriksson in 1963, it has become a common but under-recognized genetic condition that predisposes to chronic obstructive pulmonary disease (COPD) and liver disease. Liver disease is mainly attributed to gain-of-toxic function mechanism. Lung diseases in AATD include early onset panacinar emphysema predominantly in lower lung lobes, bronchiectasis and increased susceptibility for childhood asthma.
Citation: Al-Haggar M (2015) Genetics of a1 Anti-Trypsin (AAT) Deficiency. Gene Technology 4:e113.
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