A mutation in PTPN6 associated to emphysema alters B-lymphocyte biology in humans and mice
J Immunol. 2026 Jul 10;215(7):vkag162. doi: 10.1093/jimmun/vkag162. ABSTRACT Our group discovered a mutation in a French-Canadian family causing a severe and early-onset form of emphysema. The heterozygote mutation located in the PTPN6 gene causes an alanine to threonine switch near the catalytic site of SHP-1, leading to a reduction of its enzymatic activity. In this … Read more