Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia

BackgroundHomozygous or compound heterozygous mutations in JAGN1 cause severe congenital neutropenia. JAGN1-mutant patients present with severe early-onset bacterial infections and most have been described as low-responders to recombinant granulocyte colony-stimulating factor (G-CSF) therapy. In a m...

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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Susan Farmand, Susanne Eva Aydin, Katharina Wustrau, Svea Böhm, Francis Ayuk, Gabriele Escherich, Julia Skokowa, Ingo Müller, Kai Lehmberg
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Frontiers Media S.A. 2024-09-01
Σειρά:	Frontiers in Immunology
Θέματα:	JAGN1 deficiency severe congenital neutropenia GM-CSF SCN6 case report G-CSF
Διαθέσιμο Online:	https://www.frontiersin.org/articles/10.3389/fimmu.2024.1373495/full
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