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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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Hlavní autoři: Susan Farmand, Susanne Eva Aydin, Katharina Wustrau, Svea Böhm, Francis Ayuk, Gabriele Escherich, Julia Skokowa, Ingo Müller, Kai Lehmberg
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2024-09-01
Edice:Frontiers in Immunology
Témata:
JAGN1 deficiency
severe congenital neutropenia
GM-CSF
SCN6
case report
G-CSF
On-line přístup:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1373495/full
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