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Article

A mutation in PTPN6 associated to emphysema alters B-lymphocyte biology in humans and mice.

Journal of immunology (Baltimore, Md. : 1950) - 10 Jul 2026

Pineault Marie, Milad Nadia, Bouffard Gabrielle, Tremblay Félix, Routhier Joanie, Beaulieu Marie-Josée, Aubin Sophie, Lechasseur Ariane, Bossé Yohan, Maltais François, Morissette Mathieu C

Abstract excerpt

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 study, we aimed to characterize the respiratory and immune abnormalities caused by this mutation in human carriers...

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Share to B-Lymphocytes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Emphysema

Share to Immunoglobulin G

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 6

Share to Pulmonary Emphysema

Source

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Identifiers

PMID: 42426938
DOI: 10.1093/jimmun/vkag162
PMCID: PMC13349814

Genes

PTPN6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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