Maria Kanariou

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Desirée Schubert, Claudia Bode, Rupert Kenefeck et al. · Nature Medicine · 2014 · 822 citations · Full text

Life Sciences, Genetics, Immunology +14

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

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich et al. · Journal of Allergy and Clinical Immunology · 2018 · 441 citations · Full text

Life Sciences, Immunology, Pharmacology +12

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Laura Gámez‐Díaz, Dietrich August, Polina Stepensky et al. · Journal of Allergy and Clinical Immunology · 2016 · 291 citations · Full text

Life Sciences, Immunology, Molecular Biology +4

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

Haifa H. Jabara, Douglas R. McDonald, Erin Janssen et al. · Nature Immunology · 2012 · 221 citations · Full text

Life Sciences, Immunology, Molecular Biology +14