Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications

By afschroeder • April 9, 2026

Hersh CP, Teckman JH, Strnad P, Hakim A, Carroll TP, Hall IP, Ghosh AJ, Barjaktarevic I, McElvaney NG, Kaserman JE, Lomas DA, Strange C, Drummond MB, Rennard S, Hanna KE, Clark VC, Goldklang MP, Iverson P, Wilson AA. Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications. Orphanet J Rare Dis. 2026 Apr 8;21(1):136. doi: 10.1186/s13023-026-04283-9. PMID: 41952152.

Tags: alpha-1 antitrypsin, alpha-1 antitrypsin deficiency, Augmentation therapy, Carrier state, chronic liver disease, COPD, Heterozygote, Publications, Pulmonary, Critical Care & Sleep Medicine, rare disease

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