Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

doi:10.1182/bloodadvances.2024014344

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Article

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

Blood advances - 8 Apr 2025

Fekadu-Siebald Julia, Salzmann-Manrique Emilia, Heusel Jan Robert, Willasch Andre, Hauck Fabian, Gonzalez-Granado Luis Ignacio, Chavoshzadeh Zahra, Sharafian Samin, Cuntz Franziska, Baris Safa, Finocchi Andrea, Algeri Mattia, Sherkat Roya, Klaudel-Dreszler Maja, Zeidler Cornelia, Bellanné-Chantelot Christine, Kindle Gerhard, Beaupain Blandine, Paillard Catherine, Seidel Markus, Bader Peter, Albert Michael H, Neven Bénédicte, Donadieu Jean, Bakhtiar Shahrzad

Abstract excerpt

ABSTRACT: Jagunal-homolog1 (JAGN1) is an endoplasmic reticulum-resident protein, which is part of the early secretory pathway and granulocyte colony-stimulating factor (CSF; G-CSF) receptor-mediated signaling. Autosomal recessively inherited variants in JAGN1 lead to congenital neutropenia, early-onset bacterial infections, aphthosis, and skin abscesses due to aberrant differentiation and maturation of...

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Identifiers

PMID: 39775668
DOI: 10.1182/bloodadvances.2024014344
PMCID: PMC11999202

Genes

JAGN1

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