Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency

Frontiers in Pediatrics

article

Kevin Y. Wu¹  Diana Milojevic²  Sinisa Savic³  Ravishankar Sargur⁴  Jolan E. Walter¹  Pooja Purswani⁵  Boglarka Ujhazi¹  Krisztian Csomos¹  Mihailova Snezhina⁶  Naumova Elissaveta⁶  Stefan Stefanov⁷  Svetlana Sharapova⁸  Maryssa Ellison¹ 

[1] Division of Pediatric Allergy and Immunology, Department of Pediatrics, University of South Florida, United States;Division of Rheumatology, Department of Medicine, Johns Hopkins All Children's Hospital, United States;Department of Clinical Immunology and Allergy, Leeds Institute of Rheumatic and Musculoskeletal Medicine, St. James's University Hospital, United Kingdom;Sheffield Teaching Hospitals Foundation NHS Trust, United Kingdom;Johns Hopkins All Children's Hospital Children's Research Institute, United States;Department of Clinical Immunology, University Hospital Alexandrovska, Medical University;Clinic of Rheumatology, University Pediatric Hospital, Medical University;Belarusian Research Center for Pediatric Oncology

关键词: recombination activating gene;    RAG deficiency;    rheumatoid arthritis;    primary immunodeficiency;    tocilizumab;    refractory arthritis;   

DOI  :  10.3389/fped.2019.00235

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Autoimmunity is becoming an increasingly recognized complication in patients with primary immunodeficiencies (PIDs), including a variety of combined immune deficiencies such as Recombination Activating Gene (RAG) defects. The approach to treating autoimmunity in PID patients is complex, requiring a balance between immunosuppression and susceptibility to infection. Inflammatory arthritis is a feature of immune dysregulation in many PIDs, and the optimal treatment may differ from first line therapies that usually consist of disease-modifying anti rheumatic drugs (DMARDs). An example of mechanism-based therapy of arthritis in PID uses blockade of IL-6 signaling with tocilizumab for patients with STAT 3 gain-of-function (GOF) mutation and augmented IL-6 pathway. Herein, we describe two PID cases with arthritis who were found to have defects in RAG. One patient with refractory inflammatory arthritis experienced remarkable improvement in symptoms with tocilizumab therapy. Arthritis can be a clinical feature of immune dysregulation in RAG deficiency, and tocilizumab therapy has been suggested to have utility in treatment of arthritis in RAG deficiency.

【 授权许可】

CC BY