Article
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
Science immunology - 12 Aug 2022
Rae William, Sowerby John M, Verhoeven Dorit, Youssef Mariam, Kotagiri Prasanti, Savinykh Natalia, Coomber Eve L, Boneparth Alexis, Chan Angela, Gong Chun, Jansen Machiel H, du Long Romy, Santilli Giorgia, Simeoni Ilenia, Stephens Jonathan, Wu Kejia, Zinicola Marta, Allen Hana Lango, Baxendale Helen, Kumararatne Dinakantha, Gkrania-Klotsas Effrossyni, Scheffler Mendoza Selma C, Yamazaki-Nakashimada Marco Antonio, Ruiz Laura Berrón, Rojas-Maruri Cesar Mauricio, Lugo Reyes Saul O, Lyons Paul A, Williams Anthony P, Hodson Daniel J, Bishop Gail A, Thrasher Adrian J, Thomas David C, Murphy Michael P, Vyse Timothy J, Milner Joshua D, Kuijpers Taco W, Smith Kenneth G C
Abstract excerpt
Tumor necrosis factor receptor-associated factor 3 (TRAF3) is a central regulator of immunity. TRAF3 is often somatically mutated in B cell malignancies, but its role in human immunity is not defined. Here, in five unrelated families, we describe an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia. Affected...
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