article_metadata: Susan Farmand Susanne Eva Aydin Katharina Wustrau Svea Böhm Francis Ayuk Gabriele Escherich Julia Skokowa Ingo Müller Kai Lehmberg
article_metadata: 10.3389/fimmu.2024.1373495
article_metadata: Front Immunol
article_metadata: 2024 Sep 2:15:1373495.
article_metadata: g-csf gm-csf jagn1 deficiency scn6 case report severe congenital neutropenia
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39286252/
article_metadata: Congenital Bone Marrow Failure Syndromes / genetics Granulocyte-Macrophage Colony-Stimulating Factor / therapeutic use Mutation Neutropenia / congenital Neutropenia / drug therapy Neutropenia / genetics Neutrophils / immunology Recombinant Proteins / therapeutic use
article_metadata: Congenital Bone Marrow Failure Syndromes / genetics Granulocyte-Macrophage Colony-Stimulating Factor / therapeutic use Mutation Neutropenia / congenital Neutropenia / drug therapy Neutropenia / genetics Neutrophils / immunology Recombinant Proteins / therapeutic use Case Reports Adolescent Female Humans Infant Membrane Proteins Phenotype Pregnancy Granulocyte-Macrophage Colony-Stimulating Factor sargramostim JAGN1 protein, human Recombinant Proteins Membrane Proteins Neutropenia, Severe Congenital, Autosomal Recessive 3
article_metadata: PMC11404322
article_metadata: 39286252
article_metadata: Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia
article_metadata: 2024