New pathogenic PTPN2 variant leading to childhood interstitial lung disease.

Protein tyrosine phosphatase non-receptor type 2 () is a tyrosine phosphatase involved in T cell receptor signal transduction and cytokine response. Loss of function variants have previously been linked with immune mediated diseases such as inflammatory bowel disorders, rheumatoid arthritis and type 1 diabetes. We present a case of childhood interstitial lung disease with a newly identified pathogenic ) gene variant in a boy aged 4 years.KEYWORDSPaediatric interstitial lung disease© Author(s) (or their employer(s)) 2026. No commercial re-use. See rights and permissions. Published by BMJ Group.