A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.

Zhang, Mingce; Bracaglia, Claudia; Prencipe, Giusi; Bemrich-Stolz, Christina J; Beukelman, Timothy; Dimmitt, Reed A; Chatham, W Winn; Zhang, Kejian; Li, Hao; Walter, Mark R; De Benedetti, Fabrizio; Grom, Alexei A; Cron, Randy Q

Zhang, Mingce; Bracaglia, Claudia; Prencipe, Giusi; Bemrich-Stolz, Christina J; Beukelman, Timothy; Dimmitt, Reed A; Chatham, W Winn; Zhang, Kejian; Li, Hao; Walter, Mark R; De Benedetti, Fabrizio; Grom, Alexei A; Cron, Randy Q.

Affiliation

Zhang M; Division of Pediatric Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233;
Bracaglia C; Divisione di Reumatologia Pediatrica, Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy;
Prencipe G; Divisione di Reumatologia Pediatrica, Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy;
Bemrich-Stolz CJ; Division of Pediatric Hematology-Oncology, University of Alabama at Birmingham, Birmingham, AL 35233;
Beukelman T; Division of Pediatric Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294;
Dimmitt RA; Division of Pediatric Gastroenterology, University of Alabama at Birmingham, Birmingham, AL 35233;
Chatham WW; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294;
Zhang K; Human Genetics, University of Cincinnati, Cincinnati, OH 45229;
Li H; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294;
Walter MR; Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294; and.
De Benedetti F; Divisione di Reumatologia Pediatrica, Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy;
Grom AA; Division of Pediatric Rheumatology, University of Cincinnati, Cincinnati, OH 45229.
Cron RQ; Division of Pediatric Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35233; Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL 35294; rcron@peds.uab.edu.

J Immunol ; 196(6): 2492-503, 2016 Mar 15.

Article de En | MEDLINE | ID: mdl-26880764

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Cellules tueuses naturelles / Dégranulation cellulaire / Mutation faux-sens / Protéines G rab / Lymphohistiocytose hémophagocytaire Type d'étude: Risk_factors_studies Limites: Adolescent / Female / Humans / Male Langue: En Journal: J Immunol Année: 2016 Type de document: Article Pays de publication: États-Unis d'Amérique

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