New pathogenic PTPN2 variant leading to childhood interstitial lung disease

Thorax 2026

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Authors: Nicola Jane Rowbotham, Marie Jeanpierre, Andrew Bush, Sumit Jagani, Gabriela E. Jones, Kishore Warrier, Marianna Parlato, Frédéric Rieux‐Laucat, Jayesh Bhatt
DOI: 10.1136/thorax-2025-224469
Cited by: 0
References: 10

Abstract

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.

Fields of Study & Subjects

Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis Protein Tyrosine Phosphatases Immunodeficiency and Autoimmune Disorders

Publication details

Journal / source
Thorax
Volume
81
Issue
10
Pages
1017–1019
Publication date
16 January 2026
Language
EN