New pathogenic PTPN2 variant leading to childhood interstitial lung disease.
case_report · Level V
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- Record sourced from PubMed, PMID 41545210.
- Also identified by DOI 10.1136/thorax-2025-224469.
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Abstract
Protein tyrosine phosphatase non-receptor type 2 (<i>PTPN2</i>) 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 <i>(PTPN2</i>) gene variant in a boy aged 4 years.