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
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.
Fekadu-Siebald J et al.
Blood Advances, 2025
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
JAGN1 mutation with distinct clinical features; two case reports and literature review.
Hojabri M et al.
Bmc Pediatrics, 2023
Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review.
Thomas S et al.
Frontiers in Pediatrics, 2023
A crucial role for Jagunal homolog 1 in humoral immunity and antibody glycosylation in mice and humans.
Hagelkruys A et al.
The Journal of Experimental Medicine, 2021
Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.
Khandagale A et al.
British Journal of Haematology, 2021
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
Çipe FE et al.
The Turkish Journal of Pediatrics, 2020
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.
Cifaldi C et al.
Journal of Pediatric Hematology/oncology, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Boztug K et al.
Nature Genetics, 2014
HAX1 mutation in an infant with severe congenital neutropenia.
Eghbali A et al.
The Turkish Journal of Pediatrics, 0
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