Laura Polivka, MD, MSc a, b, ∗
These authors contributed equally to this work.
, Smail Hadj-Rabia, MD, PhD a, b, ∗
These authors contributed equally to this work.
, Elodie Bal, PhD b, Stéphanie Leclerc-Mercier, MD a, c, Marine Madrange, MSc b, Yamina Hamel, PhD b, Damien Bonnet, MD, PhD d, Stéphanie Mallet, MD e, Hubert Lepidi, MD f, Caroline Ovaert, MD g, Patrick Barbet, MD, PhD c, Christophe Dupont, MD h, Bénédicte Neven, MD, PhD i, Arnold Munnich, MD, PhD j, Lisa M. Godsel, PhD k, l, Florence Campeotto, MD, PhD m, Robert Weil, MD, PhD n, Emmanuel Laplantine, PhD n, Sylvie Marchetto, BS, BM o, Jean-Paul Borg, PhD o, William I. Weis, PhD p, Jean-Laurent Casanova, MD, PhD i, q, r, s, t, Anne Puel, PhD q, r, s, t, Kathleen J. Green, PhD k, l, Christine Bodemer, MD, PhD a, b, ∗
These authors contributed equally to this work.
, Asma Smahi, PhD b, ∗
These authors contributed equally to this work.
a Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
b Laboratory of Genetics of Monogenic Auto-inflammatory Diseases, Necker Branch, U1163, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
c Department of Pathology, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
d M3C-Necker, Pediatric Reference Center for Inherited Cardiac Diseases, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
h Department of Pediatric Gastroenterology, Hepatology and Nutrition, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
i Department of Pediatric Immunology and Hematology, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
m Department of Paediatric Gastroenterology, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
e Department of Dermatology, La Timone Hospital (AP-HM), Aix Marseille University, Marseille, France
f Department of Pathology, La Timone Hospital (AP-HM), Aix Marseille University, Marseille, France
g Department of Pediatric Cardiology, La Timone Hospital (AP-HM), Aix Marseille University, Marseille, France
j Laboratory of Molecular and Pathophysiological Basis of Cognitive Disorders, U1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France
k Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Ill
l Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, Ill
n Laboratory of Signaling and Pathogenesis, Centre National de la Recherche Scientifique, UMR3691, Pasteur Institute, Paris, France
o Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille University, UM105, Inst Paoli-Calmettes, CNRS, UMR7258, Inserm, U1068, “Cell Polarity, Cell Signalling, and Cancer–Equipe Labellisée Ligue Contre le Cancer,” Marseille, France
p Departments of Structural Biology, Molecular & Cellular Physiology and Photon Science, Stanford University, Stanford, Calif
q Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France
r Paris Descartes University, Imagine Institute, Paris, France
s St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY
t Howard Hughes Medical Institute, New York, NY