Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

Boutboul, David; Sun Kuehn, Hye; Van de Wyngaert, Zoé; E. Niemela, Julie; Callebaut, Isabelle; Stoddard, Jennifer; Lenoir, Christelle; Barlogis, Vincent; Farnarier, Catherine; Vely, Frédéric; Yoshida, Nao; Kojima, Seiji; Kanegane, Hirokazu; Hoshino, Akihiro; Hauck, Fabian; Lhermitte, Ludovic; Asnafi, Vahid; Roehrs, Philip; Chen, Shaoying; Verbsky, James; R. Calvo, Katherine; Husami, Ammar; Zhang, Kejian; L. Roberts, Joseph; J. Amrol, David; Sleaseman, John; P. Hsu, Amy; M. Holland, Steven; Marsh, Rebecca; Fischer, Alain; A. Fleisher, Thomas; Pïcard, Capucine; Latour, Sylvain; D. Rosenzweig, Sergio

doi:10.1172/jci98164

Public

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

Published in Journal of Clinical Investigation • Jun 10, 2018

Authors:

David Boutboul

Hye Sun Kuehn

Zoé Van de Wyngaert

Abstract

Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic l...

Subject

Biology

Immunology

Myeloid

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