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 · 216 citations · Full text

Life Sciences, Immunology, Infectious Diseases +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 · 193 citations · Full text

Medicine, Immunology, Pathology +12

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 · 161 citations

Life Sciences, Genetics, Molecular Genetics +15

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 · 161 citations · Full text

Medicine, Hematology, Immunology +12

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 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15