Emmanuelle Jouanguy1, Salma Lamhamedi-Cherradi1, David Lammas2, Susan E. Dorman3, Marie-Claude Fondanèche1, Stéphanie Dupuis1, Rainer Döffinger1, Frédéric Altare1, John Girdlestone4, Jean-François Emile5, Henri Ducoulombier6, David Edgar7, Jane Clarke8, Vivi-Anne Oxelius9, Melchiorre Brai10, Vas Novelli11, Klaus Heyne12, Alain Fischer1, 13, Steven M Holland3, Dinakantha S Kumararatne2, 14, Robert D. Schreiber15
& Jean-Laurent Casanova1, 131
INSERM U429, Hôpital Necker-Enfants Malades,
75015 Paris, France.
2
MRC Centre for Immune Regulation, The Medical School,
University of Birmingham, B15 2TT Birmingham,
UK.
3
Laboratory of Host Defenses, National Institutes of
Health, 20892 Bethesda, Maryland, USA.
4
Department of Anatomy, The Medical School, University
of Birmingham, B15 2TT Birmingham, UK.
5
Service d'Anatomie Pathologique, Hôpital Paul
Brousse, 94804 Villejuif, France.
6
Service de Pediatrie, Hôpital Saint Antoine,
59019 Lille, France.
7
Regional Immunology Service, Royal Victoria Hospital,
BT12 6BN Belfast, UK.
8
Respiratory and Cystic Fibrosis Unit, Children's Hospital,
B4 6NH Birmingham, UK.
9
Department of Pediatrics, University of Lund,
221 85 Lund, Sweden.
10
Istituto di Patologia Generale, 90134
Palermo, Italy.
11
Infectious Diseases Unit, Great Ormond Street Hospital,
WC1N 3JH London, UK.
12
Illerweg 73, 24146 Kiel,
Germany.
13
Unité d'Immunologie et d'Hématologie
Pédiatriques, Hôpital Necker-Enfants Malades, 75015
Paris, France.
14
Regional Department of Immunology, Heartlands Hospital,
Birmingham B9 5SS, UK.
15
Department of Pathology, Washington University,
63110 St Louis, Missouri, USA.
Correspondence should be addressed to Jean-Laurent Casanova casanova@ceylan.necker.fr
receptors that lack the intra-cytoplasmic domain, which, through a combination
of impaired recycling, abrogated signalling and normal binding to IFN
