2024年12月25日 · IKZF2 (IKAROS Family Zinc Finger 2) is a Protein Coding gene. Diseases associated with IKZF2 include Otitis Media and Leukemia, Acute Lymphoblastic . Gene Ontology (GO) annotations related to this gene include nucleic acid …

2025年2月8日 · Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation. Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells. Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.

2023年3月3日 · The IKZF2 (Helios) transcription factor plays a crucial role in maintaining function and stability of Treg cells, and IKZF2 deficiency reduces tumor growth in mice. Here we report the discovery of NVP-DKY709, a selective molecular glue degrader of IKZF2 that spares IKZF1/3.

2021年11月26日 · Here, we describe a heterozygous IKZF2 loss-of-function variant in a single family, causing an immunodeficiency with increased immune activation and profound reduction of mucosal-associated invariant T (MAIT) cells. Affected patients have lymphadenopathy with dysregulated germinal centers and aberrations in antibody production, reminiscent of ...

IKZF2 is highly expressed in leukemic stem cells (LSCs), and its deficiency results in defective LSC function. IKZF2 depletion in acute myeloid leukemia (AML) cells reduced colony formation, increased differentiation and apoptosis, and delayed leukemogenesis.

2024年12月10日 · Title: Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells. Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.

2023年4月10日 · Here we report the development of cereblon-dependent degraders of IKZF2 and casein kinase 1α (CK1α), termed DEG-35 and DEG-77. We utilized a structure-guided approach to develop DEG-35 as a nanomolar degrader of IKZF2, a hematopoietic-specific transcription factor that contributes to myeloid leukemogenesis.

Ikzf2(cello/cello) outer hair cells have greatly reduced prestin (SLC26A5; 604943)-dependent electromotile activity, a hallmark of outer hair cell functional maturation, and show reduced levels of crucial outer hair cell-expressed genes such as Slc26a5 and oncomodulin (OCM; 164795).

2022年4月12日 · We identified germline IKZF2 mutations (one nonsense (p.R291X)- and 4 distinct missense variants) in six patients with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated hemophagocytic lymphohistiocytosis.

2023年3月7日 · Recently, the Ikaros transcription factor family member IKZF2 (Helios) — which plays a crucial role in maintaining the function and stability of T reg cells — has emerged as an attractive target...