DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity

Benjamin Fournier; Maud Tusseau; Marine Villard; Christophe Malcus; Emilie Chopin; Emmanuel Martin; Debora Jorge Cordeiro; Nicole Fabien; Mathieu Fusaro; Alexandra Gauthier; Nathalie Garnier; David Goncalves; Sonia Lounis; Christelle Lenoir; Anne-Laure Mathieu; Marion Moreews; Magali Perret; Capucine Picard; Cécile Picard; Françoise Poitevin; Sébastien Viel; Yves Bertrand; Thierry Walzer; Alexandre Belot; Sylvain Latour

doi:10.1016/j.jaci.2020.05.052

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity

J Allergy Clin Immunol. 2021 Feb;147(2):740-743.e9. doi: 10.1016/j.jaci.2020.05.052. Epub 2020 Jun 17.

Authors

Benjamin Fournier¹, Maud Tusseau², Marine Villard³, Christophe Malcus⁴, Emilie Chopin⁵, Emmanuel Martin¹, Debora Jorge Cordeiro¹, Nicole Fabien³, Mathieu Fusaro⁶, Alexandra Gauthier⁷, Nathalie Garnier⁷, David Goncalves³, Sonia Lounis¹, Christelle Lenoir¹, Anne-Laure Mathieu², Marion Moreews², Magali Perret³, Capucine Picard⁸, Cécile Picard⁹, Françoise Poitevin⁴, Sébastien Viel¹⁰, Yves Bertrand¹¹, Thierry Walzer², Alexandre Belot¹², Sylvain Latour¹³

Affiliations

¹ Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR 1163, F-75015, Paris, France; Université de Paris, Imagine Institute, F-75015, Paris, France.
² International Center for Infectiology Research, Inserm U1111, Ecole Normale Supérieure de Lyon, Université Lyon 1, CNRS, UMR5308, Lyon, France.
³ Immunology Department, Centre Hospitalier Lyon Sud, Pierre-Bénite, Lyon 1 University, France.
⁴ Immunology Laboratory, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.
⁵ Centre de Biotechnologie Cellulaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.
⁶ Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR 1163, F-75015, Paris, France; Study Center for Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris, Necker-Enfants Malades Hospital, F-75015, Paris, France.
⁷ Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
⁸ Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR 1163, F-75015, Paris, France; Université de Paris, Imagine Institute, F-75015, Paris, France; Study Center for Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris, Necker-Enfants Malades Hospital, F-75015, Paris, France.
⁹ Institut de Pathologie Multisite, Groupement Hospitalier Est, Hospices Civils de Lyon, UCBL Lyon 1 University, Lyon, France.
¹⁰ International Center for Infectiology Research, Inserm U1111, Ecole Normale Supérieure de Lyon, Université Lyon 1, CNRS, UMR5308, Lyon, France; Immunology Department, Centre Hospitalier Lyon Sud, Pierre-Bénite, Lyon 1 University, France.
¹¹ International Center for Infectiology Research, Inserm U1111, Ecole Normale Supérieure de Lyon, Université Lyon 1, CNRS, UMR5308, Lyon, France; Institut d'Hématologie et d'Oncologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
¹² International Center for Infectiology Research, Inserm U1111, Ecole Normale Supérieure de Lyon, Université Lyon 1, CNRS, UMR5308, Lyon, France; National Referee Centre for Rheumatic and AutoImmune and Systemic diseases in childrEn (RAISE), France; Pediatric Nephrology, Rheumatology, Dermatology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, University Lyon I, Lyon, France. Electronic address: alexandre.belot@chu-lyon.fr.
¹³ Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Institut National de la Santé et de la Recherche Médicale (Inserm) UMR 1163, F-75015, Paris, France; Université de Paris, Imagine Institute, F-75015, Paris, France. Electronic address: sylvain.latour@inserm.fr.

PMID: 32562707
DOI: 10.1016/j.jaci.2020.05.052

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Autoimmune Diseases / genetics*
Autoimmune Diseases / immunology
Autoimmunity / genetics
Autoimmunity / immunology
Child
DNA-Binding Proteins / deficiency*
DNA-Binding Proteins / genetics*
DNA-Binding Proteins / immunology
Epstein-Barr Virus Infections / genetics*
Epstein-Barr Virus Infections / immunology
Female
Guanine Nucleotide Exchange Factors / deficiency*
Guanine Nucleotide Exchange Factors / genetics*
Guanine Nucleotide Exchange Factors / immunology
Humans
Infant
Lymphoma / genetics*
Lymphoma / immunology
Male
Pedigree
Point Mutation

Substances

DEF6 protein, human
DNA-Binding Proteins
Guanine Nucleotide Exchange Factors