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

New and emerging rheumatic diseases, An Issue of Rheumatic Disease Clinics of North America

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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.

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

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New and emerging rheumatic diseases, An Issue of Rheumatic Disease Clinics of North America

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Erin Janssen