Open access
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
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.