Article
T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
The Journal of experimental medicine - 6 Dec 2021
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
Abstract excerpt
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 involvement, Pneumocystis jirovecii pneumonia, and/or chronic lymphocytic leukemia. Patients carrying the AIOLOS p.N160S...
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