A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T_H17 immunity - 04/10/18

Marieke De Bruyne, MSc ^{a, b, c, d}, Delfien J. Bogaert, MD, PhD ^{a, b, c, d, e}, Koen Venken, PhD ^{f, g}, Lien Van den Bossche, PhD ^{a, b}, Carolien Bonroy, MPharm, PhD ^{b, h}, Lisa Roels, BSc ^{a, b}, Simon J. Tavernier, MD, PhD ^{a, b, e}, Els van de Vijver, MD ^{i, j}, Ann Driessen, MD, PhD ^{k, l}, Marielle van Gijn, PhD ^m, Laura Gámez-Diaz, PhD ⁿ, Dirk Elewaut, MD, PhD ^{f, g}, Bodo Grimbacher, MD ⁿ, Filomeen Haerynck, MD, PhD ^{a, b, d}, Nicolette Moes, MD, PhD ^{i, j,} ∗

  These authors contributed equally to this work.

, Melissa Dullaers, PhD ^{a, b, e, o,} ∗

  These authors contributed equally to this work.

^a Clinical Immunology Research Lab, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium 

^b Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium 

^c Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium 

^d Department of Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium 

^e Laboratory of Immunoregulation, VIB-UGent Inflammation Research Center, Ghent, Belgium 

^f Department of Rheumatology, Ghent University Hospital, Ghent, Belgium 

^g Unit for Molecular Immunology and Inflammation, VIB-UGent Inflammation Research Center, Ghent, Belgium 

^h Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium 

ⁱ Department of Pediatric Gastroenterology, Antwerp University Hospital, Edegem, Belgium 

^j Laboratory of Experimental Medicine and Pediatrics, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium 

^k Department of Pathology, Antwerp University Hospital, Edegem, Belgium 

^l Molecular imaging, Pathology, Radiotherapy & Oncology (MIPRO), Faculty of Medicine and Healthcare Sciences, University of Antwerp, Antwerp, Belgium 

^m Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 

ⁿ Center for Chronic Immunodeficiency, University Medical Center of Freiburg, University of Freiburg, Freiburg, Germany 

^o Department of Internal Medicine, Ghent University, Ghent, Belgium