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T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients
AIOLOS/IKZF3 is a member of the IKAROS family of transcription factors. IKAROS/IKZF1 mutations have been previously associated with different forms of primary immunodeficiency. Here we describe a novel combined immunodeficiency due to an IKZF3 mutation in a family presenting with T and B cell involv...
Autores principales: | Kuehn, Hye Sun, Chang, Jingjie, Yamashita, Motoi, Niemela, Julie E., Zou, Chengcheng, Okuyama, Kazuki, Harada, Junji, Stoddard, Jennifer L., Nunes-Santos, Cristiane J., Boast, Brigette, Baxter, Ryan M., Hsieh, Elena W.Y., Garofalo, Mary, Fleisher, Thomas A., Morio, Tomohiro, Taniuchi, Ichiro, Dutmer, Cullen M., Rosenzweig, Sergio D. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Rockefeller University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548914/ https://www.ncbi.nlm.nih.gov/pubmed/34694366 http://dx.doi.org/10.1084/jem.20211118 |
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