Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

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...

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Udgivet i:Blood
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2021
Fag:
Hematopoiesis and Stem Cells
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7819759/
https://ncbi.nlm.nih.gov/pubmed/32845957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2020007292
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