Article
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
The Journal of clinical investigation - 2 Jul 2018
Boutboul David, Kuehn Hye Sun, Van de Wyngaert Zoé, Niemela Julie E, 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 W, Calvo Katherine R, Husami Ammar, Zhang Kejian, Roberts Joseph, Amrol David, Sleaseman John, Hsu Amy P, Holland Steven M, Marsh Rebecca, Fischer Alain, Fleisher Thomas A, Picard Capucine, Latour Sylvain, Rosenzweig Sergio D
Abstract excerpt
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 leukemia (ALL) in children and adults. Recently, heterozygous germline IKZF1 mutations have been identified in...
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