JAGN1 mutation with distinct clinical features; two case reports and literature review.

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第一作者： Mahsa,Hojabri

第一单位： Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

作者： Mahsa,Hojabri ^[1] ; Yeganeh,Farsi ^[1] ; Mahnaz,Jamee ^[2] ; Hassan,Abolhassani ^[3] ; Hedieh Haji Khodaverdi,Khani ^[4] ; Abdollah,Karimi ^[5] ; Mehrnaz,Mesdaghi ^[6] ; Zahra,Chavoshzadeh ^[6] ; Samin,Sharafian ^[7]

作者单位： Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ^[1] Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.;Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ^[2] Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden. ^[3] Department of Immunology, Faculty of Medical Sciences, Shahed University, Tehran, Iran. ^[4] Pediatric Infections Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ^[5] Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ^[6] Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. samin.sh2020@yahoo.com. ^[7]

关键词 Inborn error of immunity JAGN1 Jagunal homolog 1 Severe congenital neutropenia

主题词人类(Humans);突变(Mutation);中性粒细胞减少(Neutropenia);中性白细胞(Neutrophils);膜蛋白质类(Membrane Proteins)

DOI 10.1186/s12887-023-04024-y

PMID 37120535

发布时间 2023-08-25

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