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Article

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

17 Dec 2021

Abstract excerpt

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 mutations are frequently found in lymphoid malignancies. Although germline mutations in IKZF1 and IKZF3 encoding Ikaros and Aiolos have recently been identified in patients with phenotypically similar immunodeficiency syndromes, the...

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PMID: 34920454
DOI: 10.1182/bloodadvances.2021006367

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