A case report reveals a pathogenic PTPN2 variant causing interstitial lung disease in a young boy, suggesting new genetic links to respiratory issues.
Protein tyrosine phosphatase non-receptor type 2 ( PTPN2 ) 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 (PTPN2 ) gene variant in a boy aged 4 years.
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Rowbotham et al. (2026) studied this question.
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