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

Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Cordeiro DJ, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S.

Source : J. Allergy Clin. Immunol.

2020 Jun 17

Pmid : 32562707

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.

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