Pierre‐Simon Rohrlich

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Juliette Albuisson, Swetha E. Murthy, Michael Bandell et al. · Nature Communications · 2013 · 383 citations · Full text

Natural Sciences, Genetics, Molecular Genetics +14

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Jana Pachlopnik Schmid, Danielle Canioni, Despina Moshous et al. · Blood · 2010 · 366 citations · Full text

Life Sciences, Genetics, Hematology +8

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

Alain Fischer, Johan Provot, Jean‐Philippe Jaïs et al. · Journal of Allergy and Clinical Immunology · 2017 · 317 citations

Life Sciences, Immunology, Internal Medicine +11

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

Paul Bastard, Elizaveta Orlova, Leila Sozaeva et al. · The Journal of Experimental Medicine · 2021 · 306 citations · Full text

Life Sciences, Immunology, Internal Medicine +10

New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children

Nathalie Aladjidi, Guy Leverger, Thierry Leblanc et al. · Haematologica · 2011 · 232 citations · Full text

Medicine, Hematology, Pediatrics +17