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

S. Moussavi-Harami M. Zinter M. Motta Luca Pannone Paolo Calligari Luca Mignini A. Slavotinek P.-M. Martin Henry Sanchez Lauren Sanchez I. Ragab C. Abram M. Broly Yasmina Abi Ayad Amina Serradj G. Boursier A. Bertoli-Avella Mukunth Sadagopan N. Parvaneh S. Sedighzadeh Ebrahim Mirzaei Mohammad Shahrooei Amy P. Hsu Steven M. Holland G. Bocchinfuso Lorenzo Stella Simone Martinelli Bruno Reversade M. Tartaglia Clifford A. Lowell M. Looney Alice Y. Chan
Oct 2026 · Journal of Experimental Medicine · Vol 223 · 0 citations · 49 references
Medicine

Abstract

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.

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