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

Archive ouverte | Boutboul, David | CCSD

International audience. Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferati...

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation

Archive ouverte | Hoshino, Akihiro | CCSD

International audience. IKZF1/IKAROS is a key transcription factor of lymphocyte development expressed throughout hematopoiesis. Heterozygous germline IKZF1 haploinsufficient ( IKZF1 HI ) and dominant-negative ( IKZ...

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

Archive ouverte | Shahin, Tala | CCSD

International audience. Abstract Helios, encoded by IKZF2, is a member of the Ikaros family of transcription factors with pivotal roles in T-follicular helper, NK- and T-regulatory cell physiology. Somatic IKZF2 mut...

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