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P.-M. Martin

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Open access Oct 2026

Biallelic loss-of-function PTPN6 variants lead to inflammatory lung disease and hemolytic anemia

Moussavi-Harami et al. report that biallelic loss-of-function variants in PTPN6, encoding the immune-regulatory phosphatase SHP1, cause anemia and fatal lung hyperinflammation in families from diverse ethnic backgrounds.

S. Moussavi-Harami, M. Zinter, M. Motta et al. · 0 citations

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