Associated Papers
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia.
Daddali R et al.
Clinical Immunology (orlando, Fla.), 2025
Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia.
Peng Q et al.
Frontiers in Immunology, 2025
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