Joris van Montfrans

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann et al. · The Journal of Allergy and Clinical Immunology In Practice · 2019 · 621 citations · Full text

Life Sciences, Immunology, Pediatrics +12

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Julie Toubiana, Satoshi Okada, Julia Hiller et al. · Blood · 2016 · 567 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

Hasan Hashem, Ashish Kumar, Ingo Müller et al. · Blood · 2017 · 189 citations · Full text

Life Sciences, Hematology, Immunology +12

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Maria Elena Maccari, Hassan Abolhassani, Asghar Aghamohammadi et al. · Frontiers in Immunology · 2018 · 182 citations · Full text

Life Sciences, Immunology, Pharmacotherapy +17

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

Claudia Wehr, Andrew R. Gennery, Caroline A. Lindemans et al. · Journal of Allergy and Clinical Immunology · 2015 · 141 citations · Full text

Life Sciences, Hematology, Immunology +14