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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2021
Assuntos:
Hematopoiesis and Stem Cells
Acesso em linha: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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