Associated Papers
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
A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation.
Doll L et al.
Blood Advances, 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 study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
Çipe FE et al.
The Turkish Journal of Pediatrics, 2020
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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