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

cfDNA derived gene signatures as surrogate for microvascular invasion in HCC

Gong R, Wang L, Xue D, Cai J, Jiang Y, Huang J, Zhu J, Li Z, Ke A, Shi G, Wang J, Wang W, Zheng[...]

Hidradenitis in Pediatrics

Dhillon S, Horneck N, Smogorzewski J. Hidradenitis in Pediatrics. Adv Pediatr. 2026 Aug;73(1):295-307. doi: 10.1016/j.yapd.2025.12.007. Epub 2026 May 21. PMID: 42481098.

Impact of antenatal screening for Chlamydia and Gonorrhea on pregnancy outcomes in South African women

Nyemba DC, de Voux A, Mvududu R, Peters RPH, Delany-Moretlwe S, Johnson LF, Coates TJ, Myer L, Davey DLJ. Impact of antenatal screening for Chlamydia[...]