New pathogenic PTPN2 variant leading to childhood interstitial lung disease.

ThoraxSep 15, 2026 (epub)
Case ReportPulmonologyMedical Genetics

Nicola Jane Rowbotham, Marie Jeanpierre, Andrew Bush et al.

✦ AI-curated · Sources linked

Case in brief

A 4-year-old boy presented with childhood interstitial lung disease, which was linked to a newly identified pathogenic variant in the PTPN2 gene. The diagnosis was established through genetic testing, revealing the loss of function variant associated with his respiratory condition. Management strategies were implemented, leading to an improvement in his symptoms.

Diagnostic / clinical pearl

Clinicians should consider genetic testing for PTPN2 variants in cases of childhood interstitial lung disease, as it may reveal underlying pathogenic mechanisms.

Source

PubMed · PMID 41545210

Published in Thorax. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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