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T and B Cell Abnormalities, Pneumocystis Pneumonia, and Chronic Lymphocytic Leukemia Associated with an AIOLOS Defect in Patients

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Investigators described 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.
[Journal of Experimental Medicine]

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