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Clinical Immunology (Orlando, Fla.)|April 28, 2025
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemiaRavindra Daddali, Kaisa Kettunen, Tanja Turunen, et al.Blood|May 30, 2023
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysisSevgi Kostel Bal, Sarah Giuliani, Jana Block, et al.Pageof 2