Joris M. van Montfrans

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

Joris M. van Montfrans, Andy I. M. Hoepelman, Sigrid A. Otto et al. · Journal of Allergy and Clinical Immunology · 2011 · 215 citations · Full text

Primary Immunodeficiency, Viral Persistence, Autoimmune Disease +12

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

Sebastian Bode, Sandra Ammann, Waleed Al–Herz et al. · Haematologica · 2015 · 187 citations · Full text

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

Isaäc J. Nijman, Joris M. van Montfrans, Marlous Hoogstraat et al. · Journal of Allergy and Clinical Immunology · 2013 · 160 citations

Bioinformatics, Autoimmune Disease, Medicine +12

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Victoria K. Tesch, Hassan Abolhassani, Bella Shadur et al. · Journal of Allergy and Clinical Immunology · 2019 · 152 citations · Full text

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Joris M. van Montfrans, Esther A R Hartman, Kees P. J. Braun et al. · Lara D. Veeken · 2016 · 144 citations · Full text