Three patients with defects in interferon gamma receptor
signaling: a challenging diagnosis
Zijun Zhou,1,2,6 Iris H.I.M.
Hollink,3,6 Arjan Bouman,3,6 Mirthe
S. Lourens,1,6 Rik A. Brooimans,1,6Tjakko J. van Ham,3 Pieter
L.A.Fraaij,4,6 Annemarie M.C. van
Rossum,4,6 Eline A.M. Zijtregtop,5Willem A. Dik,1,6 Virgil A.S.H.
Dalm,1,2,6 P. Martin van Hagen,1,2,6Hanna IJspeert,1,6# Clementien. L.
Vermont4,6#*
1Erasmus MC, University Medical Center Rotterdam,
Laboratory Medical Immunology, department of Immunology, the Netherlands
2 Erasmus MC, University Medical Center Rotterdam,
department of Internal Medicine, Division of Clinical Immunology, the
Netherlands
3Erasmus MC, University Medical Center Rotterdam,
department of Clinical Genetics, the Netherlands
4Erasmus MC, University Medical Center
Rotterdam-Sophia Children’s Hospital, department of Pediatrics, Division
of Pediatric Infectious Disease and Immunology, the Netherlands
5Erasmus MC, University Medical Center
Rotterdam-Sophia Children’s Hospital, department of Pediatrics, Division
of Pediatric Hemato-oncology, the Netherlands
6Erasmus MC, University Medical Center Rotterdam,
Academic Center for Rare Immunological Diseases (RIDC), the Netherlands
# these authors contributed equally
Running title: IFN-γR signaling defects in MSMD patients