Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

doi:10.1182/blood.2020007292

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Article

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Blood - 21 Jan 2021

Kuehn Hye Sun, Niemela Julie E, Stoddard Jennifer, Mannurita Sara Ciullini, Shahin Tala, Goel Shubham, Hintermeyer Mary, Heredia Raul Jimenez, Garofalo Mary, Lucas Laura, Singh Smriti, Tondo Annalisa, Jacobs Zachary, Gahl William A, Latour Sylvain, Verbsky James, Routes John, Cunningham-Rundles Charlotte, Boztug Kaan, Gambineri Eleonora, Fleisher Thomas A, Chandrakasan Shanmuganathan, Rosenzweig Sergio D

Abstract excerpt

IKAROS is a transcription factor forming homo- and heterodimers and regulating lymphocyte development and function. Germline mutations affecting the IKAROS N-terminal DNA binding domain, acting in a haploinsufficient or dominant-negative manner, cause immunodeficiency. Herein, we describe 4 germline heterozygous IKAROS variants affecting its C-terminal dimerization domain, via haploinsufficiency, in 4 unrelated...

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Identifiers

PMID: 32845957
DOI: 10.1182/blood.2020007292
PMCID: PMC7819759

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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