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New and emerging rheumatic diseases, An Issue of Rheumatic Disease Clinics of North America
- 1st Edition, Volume 49-4 - October 11, 2023
- Editor: Erin Janssen
- Language: English
- Hardback ISBN:9 7 8 - 0 - 4 4 3 - 1 3 1 1 5 - 8
- eBook ISBN:9 7 8 - 0 - 4 4 3 - 1 3 1 1 6 - 5
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… Read more
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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.
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Provides in-depth clinical reviews on new and emerging rheumatic diseases, offering actionable insights for clinical practice.
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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.
- Cover image
- Title page
- Table of Contents
- Copyright
- Contributors
- Forthcoming Issues
- Foreword
- Preface
- Approach to Diagnosing Inborn Errors of Immunity
- Key points
- Introduction to inborn errors of immunity
- Clinical diagnosis of IEI
- Laboratory testing
- Molecular testing
- Discussion
- Clinics care points
- Disclosure
- Type I Interferonopathies: A Clinical Review
- Key points
- Background
- When to consider an interferonopathy
- Clinical syndrome(s) and associated molecular defects
- Aicardi-Goutières syndrome
- Monogenic lupus and lupus-like disease
- Stimulator of interferon genes-associated vasculopathy with onset in infancy
- Coatomer protein A syndrome
- Proteasome-associated autoinflammatory syndromes
- Singleton-Merten syndrome
- ISG15 deficiency
- USP18 deficiency
- STAT2 gain-of-function
- Tricho-hepato-enteric syndrome (THES)
- ATAD3A deficiency
- X-linked reticulate pigmentary disorder
- Current therapies
- Summary
- Clinics care points
- Disclosure
- Suppressor of Cytokine Signaling 1 Haploinsufficiency: A New Driver of Autoimmunity and Immunodysregulation
- Key points
- Introduction
- An overview of suppressor of cytokine signaling 1 biology
- Suppressor of cytokine signaling 1 deficiency in mice
- Haploinsufficiency of suppressor of cytokine signaling 1
- Future studies
- Summary
- Clinics care points
- Disclosure
- Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment
- Key points
- Introduction
- Pathogenesis
- Genetics
- Diagnosis
- Presentation
- Vasculitis/vasculopathy
- Hematologic
- Immunodeficiency
- Treatment
- Summary
- Clinics care points
- COPA Syndrome from Diagnosis to Treatment: A Clinician’s Guide
- Key points
- Introduction
- Methods
- Detailed description
- Detailed Disease Involvement by Organ System
- Therapies
- Discussion and Recommendations for Testing
- Summary
- Clinics care points
- Disclosure
- NF-κB and Related Autoimmune and Autoinflammatory Diseases
- Key points
- NF-κB pathways
- NF-κB-related autoimmune and autoinflammatory diseases
- Therapeutics
- Summary
- Clinics care points
- Disclosure
- Expanding IPEX: Inborn Errors of Regulatory T Cells
- Key points
- Introduction
- IPEX syndrome, the “classic” Tregopathy
- Additional disorders of transcription factors leading to tregopathies
- Disorders of IL-2 signaling and Treg homeostasis
- Disorders of CTLA-4 signaling
- Disorders of regulation of the actin cytoskeleton
- Characteristics and laboratory findings suggestive of Tregopathies
- Treatment for tregopathies
- Summary
- Clinics care points
- Disclosure
- Understanding the Spectrum of Immune Dysregulation Manifestations in Autoimmune Lymphoproliferative Syndrome and Autoimmune Lymphoproliferative Syndrome-like Disorders
- Introduction
- Autoimmune lymphoproliferative syndrome clinical features
- Autoimmune lymphoproliferative syndrome laboratory features
- Autoimmune lymphoproliferative syndrome-like disorders
- Summary
- Clinics care points
- Disclosure
- Genetic Defects in Early-Onset Inflammatory Bowel Disease
- Key points
- Introduction
- Classification of inflammatory bowel disease according to age group
- Epidemiology
- Pathogenesis of monogenic inflammatory bowel disease
- Clinical features suggestive of monogenic inflammatory bowel disease
- Diagnostic approach
- Summary
- Clinics care points
- Disclosure
- Mechanisms and Emerging Therapies for Treatment of Seizures in Pediatric Autoimmune Encephalitis and Autoinflammatory/Autoimmune-Associated Epilepsy
- Key points
- Introduction
- Pathophysiologic hypotheses underlying immune-mediated seizure propagation
- Distinguishing acute symptomatic seizures and autoimmune-associated epilepsy
- Seizures in autoimmune encephalitis
- Autoimmune-associated seizures without syndromic encephalitis
- NORSE/FIRES
- Rasmussen Syndrome
- Seizures in systemic autoimmune disorders
- Summary
- Disclosure
- Clinics care points
- Molecular Pathways in the Pathogenesis of Systemic Juvenile Idiopathic Arthritis
- Key points
- Introduction
- Innate immunity in systemic juvenile idiopathic arthritis
- Adaptive immunity in systemic juvenile idiopathic arthritis
- Role of “innately” adaptive immune cells
- Translating advances in disease pathogenesis to new treatment approaches
- Clinics care points
- Disclosures
- Targeted Treatment of Diseases of Immune Dysregulation
- Key points
- Introduction: innate versus adaptive immune system
- Autoinflammatory diseases
- Inflammasomopathies
- Interferonopathies
- Autoimmune conditions
- Overlap conditions
- Treatments: cytokine blockade
- Interferon blockade
- Biologics targeting T and B lymphocytes
- Summary
- Clinics care points
- Disclosure
- No. of pages: 240
- Language: English
- Edition: 1
- Volume: 49-4
- Published: October 11, 2023
- Imprint: Elsevier
- Hardback ISBN: 9780443131158
- eBook ISBN: 9780443131165
EJ