Associated Papers
Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.
Pantea CL et al.
International Journal of Molecular Sciences, 2026
Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.
Farmand S et al.
Frontiers in Immunology, 2024
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