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New and emerging rheumatic diseases, An Issue of Rheumatic Disease Clinics of North America. The Clinics: Internal Medicine Volume 49-4

  • Book

  • October 2023
  • Region: North America
  • Elsevier Health Science
  • ID: 5866935
In this issue of Rheumatic Disease Clinics, guest editor Dr. Erin Janssen brings her considerable expertise to the topic of New and Emerging Rheumatic Diseases. Top experts in the field cover issues such as approach to diagnosing in-born errors of immunity; Type I interferonopathies; SOCS1 and immune dysregulation; manifestations of DADA2; COPA syndrome; and more.
  • Contains 15 relevant, practice-oriented topics including T cell tolerance/Treg defects; gene defects in early onset IBD/colitis; autoimmunity with cytoskeletal d/o - WAS, DOCK8; autoimmune and autoinflammatory neurologic conditions; genes in HLH and that predispose to MAS; mutations in severe COVID/MISC; and more.

  • Provides in-depth clinical reviews on new and emerging rheumatic diseases, offering actionable insights for clinical practice.

  • Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews.

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Table of Contents

Approach to Diagnosing Inborn Errors of Immunity
Type I Interferonopathies: A Clinical Review
Suppressor of Cytokine Signaling 1 Haploinsufficiency: A New Driver of Autoimmunity and Immunodysregulation
Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment
COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide
NF-kB and Related Autoimmune and Autoinflammatory Diseases
Expanding IPEX: Inborn Errors of Regulatory T Cells
Understanding the Spectrum of Immune Dysregulation Manifestations in Autoimmune Lymphoproliferative Syndrome and Autoimmune Lymphoproliferative Syndrome-like Disorders
Genetic Defects in Early-Onset Inflammatory Bowel Disease
Mechanisms and Emerging Therapies for Treatment of Seizures in Pediatric Autoimmune Encephalitis and Autoinflammatory/Autoimmune-Associated Epilepsy
Molecular Pathways in the Pathogenesis of Systemic Juvenile Idiopathic Arthritis
Targeted Treatment of Diseases of Immune Dysregulation

Authors

Erin Janssen Department of Pediatrics, Harvard Medical School, Boston MA, USA
Clinical Fellow in Rheumatology, Division of Immunology, Department of Medicine, Children's Hospital Boston, Boston MA, USA.