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.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Contributors - p. iii 6. Forthcoming Issues - p. xi 7. Foreword - p. xiii 8. Preface - p. xv 9. Approach to Diagnosing Inborn Errors of Immunity - p. 731 10. Type I Interferonopathies: A Clinical Review - p. 741 11. Suppressor of Cytokine Signaling 1 Haploinsufficiency: A New Driver of Autoimmunity and Immunodysregulation - p. 757 12. Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment - p. 773 13. COPA Syndrome from Diagnosis to Treatment: A Clinician’s Guide - p. 789 14. NF-κB and Related Autoimmune and Autoinflammatory Diseases - p. 805 15. Expanding IPEX: Inborn Errors of Regulatory T Cells - p. 825 16. Understanding the Spectrum of Immune Dysregulation Manifestations in Autoimmune Lymphoproliferative Syndrome and Autoimmune Lymphoproliferative Syndrome-like Disorders - p. 841 17. Genetic Defects in Early-Onset Inflammatory Bowel Disease - p. 861 18. Mechanisms and Emerging Therapies for Treatment of Seizures in Pediatric Autoimmune Encephalitis and Autoinflammatory/Autoimmune-Associated Epilepsy - p. 875 19. Molecular Pathways in the Pathogenesis of Systemic Juvenile Idiopathic Arthritis - p. 895 20. Targeted Treatment of Diseases of Immune Dysregulation - p. 913
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.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Contributors - p. iii 6. Forthcoming Issues - p. xi 7. Foreword - p. xiii 8. Preface - p. xv 9. Approach to Diagnosing Inborn Errors of Immunity - p. 731 10. Type I Interferonopathies: A Clinical Review - p. 741 11. Suppressor of Cytokine Signaling 1 Haploinsufficiency: A New Driver of Autoimmunity and Immunodysregulation - p. 757 12. Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment - p. 773 13. COPA Syndrome from Diagnosis to Treatment: A Clinician’s Guide - p. 789 14. NF-κB and Related Autoimmune and Autoinflammatory Diseases - p. 805 15. Expanding IPEX: Inborn Errors of Regulatory T Cells - p. 825 16. Understanding the Spectrum of Immune Dysregulation Manifestations in Autoimmune Lymphoproliferative Syndrome and Autoimmune Lymphoproliferative Syndrome-like Disorders - p. 841 17. Genetic Defects in Early-Onset Inflammatory Bowel Disease - p. 861 18. Mechanisms and Emerging Therapies for Treatment of Seizures in Pediatric Autoimmune Encephalitis and Autoinflammatory/Autoimmune-Associated Epilepsy - p. 875 19. Molecular Pathways in the Pathogenesis of Systemic Juvenile Idiopathic Arthritis - p. 895 20. Targeted Treatment of Diseases of Immune Dysregulation - p. 913
