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

Authors :: Françoise Poitevin
Sonia Lounis
Cécile Picard
Marine Villard
Christophe Malcus
Alexandre Belot
Mathieu Fusaro
Capucine Picard
Sébastien Viel
Debora Jorge Cordeiro
Emmanuel Martin
Sylvain Latour
David Goncalves
Benjamin Fournier
Anne-Laure Mathieu
Magali Perret
Nicole Fabien
Marion Moreews
Yves Bertrand
Thierry Walzer
Maud Tusseau
Nathalie Garnier
Alexandra Gauthier
Emilie Chopin
Christelle Lenoir
Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163)
Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)
Source :: Journal of Allergy and Clinical Immunology, Journal of Allergy and Clinical Immunology, Elsevier, 2020, ⟨10.1016/j.jaci.2020.05.052⟩
Publication Year :: 2020
Publisher :: HAL CCSD, 2020.
Abstract: By studying four siblings with a null homozygous mutation in DEF6, we show that DEF6 deficiency is a new inherited immune dysregulation disorder with variable expressivity from autoimmunity/inflammation to EBV-associated viremia/lymphoproliferation/lymphoma without extra-hematopoietic manifestations.

Language :: English
ISSN :: 00916749
Database :: OpenAIRE
Journal :: Journal of Allergy and Clinical Immunology, Journal of Allergy and Clinical Immunology, Elsevier, 2020, ⟨10.1016/j.jaci.2020.05.052⟩
Accession number :: edsair.doi.dedup.....0b5b45c4e5ad8d3474e2cde4771ebf38
Full Text :: https://doi.org/10.1016/j.jaci.2020.05.052⟩

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