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Genetic Defects in Early-Onset Inflammatory Bowel Disease
Inflammatory bowel disease (IBD) represents a spectrum of disease, which is characterized by chronic gastrointestinal inflammation. Monogenic mutations driving IBD pathogenesis are more highly represented in early-onset compared to adult-onset disease. The pathogenic genes which dysregulate host immune responses in monogenic IBD affect both the innate (ie, intestinal barrier, phagocytes) and adaptive immune systems (ie, T  cells, B cells). Advanced genomic and targeted functional testing can improve clinical decision making and present increased opportunities for precision medicine approaches in this important patient pop...
Source: Rheumatic Disease Clinics of North America - August 12, 2023 Category: Rheumatology Authors: Atiye Olcay Bilgic Dagci, Kelly Colleen Cushing Source Type: research

Deficiency of Adenosine Deaminase 2
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic vasculitis syndrome caused by biallelic mutations in the adenosine deaminase 2 gene. The diagnosis of DADA2 is confirmed by decreased enzymatic activity of ADA2 and genetic testing. Symptoms range from cutaneous vasculitis and polyarteritis nodosa-like lesions to stroke. The vasculopathy of DADA2 can affect many organ systems, including the gastrointestinal and renal systems. Hematologic manifestations occur early with hypogammaglobulinemia, lymphopenia, pure red cell aplasia, or pancytopenia. Treatment can be challenging. Tumor necrosis factor inhibitors are helpf...
Source: Rheumatic Disease Clinics of North America - August 1, 2023 Category: Rheumatology Authors: Andrew Grim, Keila R. Veiga, Nadine Saad Source Type: research

NF- κB and Related Autoimmune and Autoinflammatory Diseases
The NF- κB pathway is a cardinal signaling pathway that has been implicated in the development of a diverse range of clinical diseases. Numerous cellular processes converge on this pathway, which results in cell proliferation and survival. Defects in this pathway and in its upstream regulators have been described as causing immunodeficiency. However, there is a growing body of literature connecting autoimmune and autoinflammatory conditions to NF-κB pathway dysfunction. This review serves as a current appraisal of the literature of these disorders. (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - August 1, 2023 Category: Rheumatology Authors: George E. Freigeh, Thomas F. Michniacki Source Type: research

Expanding IPEX: Inborn Errors of Regulatory T Cells
Regulatory T  cells (Tregs) are critical for enforcing peripheral tolerance. Monogenic “Tregopathies” affecting Treg development, stability, and/or function commonly present with polyautoimmunity, atopic disease, and infection. While autoimmune manifestations may present in early childhood, as more disorder s are characterized, conditions with later onset have been identified. Treg numbers in the blood may be decreased in Tregopathies, but this is not always the case, and genetic testing should be pursued when there is high clinical suspicion. Currently, hematopoietic cell transplantation is the only c urative treatme...
Source: Rheumatic Disease Clinics of North America - July 28, 2023 Category: Rheumatology Authors: Holly Wobma, Erin Janssen Source Type: research

Approach to Diagnosing Inborn Errors of Immunity
Inborn errors of immunity are now understood to encompass manifold features including but not limited to immunodeficiency, autoimmunity, autoinflammation, atopy, bone marrow defects, and/or increased malignancy risk. As such, it is essential to maintain a high index of suspicion, as these disorders are not limited to specific demographics such as children or those with recurrent infections. Clinical presentations and standard immunophenotyping are informative for suggesting potential underlying etiologies, but integration of data from multimodal approaches including genomics is often required to achieve diagnosis. (Source:...
Source: Rheumatic Disease Clinics of North America - July 21, 2023 Category: Rheumatology Authors: Xiao Peng, Saara Kaviany Source Type: research

Suppressor of Cytokine Signaling 1 Haploinsufficiency
Suppressor of cytokine signaling 1 (SOCS1) is a negative regulator of cytokine signaling that inhibits the activation of Janus kinases. A human disease caused by SOCS1 haploinsufficiency was first identified in 2020. To date, 18 cases of SOCS1 haploinsufficiency have been described. These patients experience enhanced activation of leukocytes and multiorgan system immunodysregulation, with immune-mediated cytopenia as the most common feature. In this review, the authors provide an overview on the biology of SOCS1 and summarize their knowledge of SOCS1 haploinsufficiency including genetics and clinical manifestations. They d...
Source: Rheumatic Disease Clinics of North America - July 21, 2023 Category: Rheumatology Authors: Meng Liu, Evan Hsu, Yan Du, Pui Y. Lee Source Type: research

COPA Syndrome from Diagnosis to Treatment
COPA syndrome is a recently described autosomal dominant inborn error of immunity characterized by high titer autoantibodies and interstitial lung disease, with many individuals also having arthritis and nephritis. Onset is usually in early childhood, with unique disease features including alveolar hemorrhage, which can be insidious, pulmonary cyst formation, and progressive pulmonary fibrosis in nonspecific interstitial pneumonia or lymphocytic interstitial pneumonia patterns. This review explores the clinical presentation, genetics, molecular mechanisms, organ manifestations, and treatment approaches for COPA syndrome, a...
Source: Rheumatic Disease Clinics of North America - July 21, 2023 Category: Rheumatology Authors: Noa Simchoni, Tiphanie P. Vogel, Anthony K. Shum Source Type: research

Molecular Pathways in the Pathogenesis of Systemic Juvenile Idiopathic Arthritis
Systemic juvenile idiopathic arthritis (sJIA) is a rare childhood chronic inflammatory disorder with risk for life-threatening complications including macrophage activation syndrome and lung disease. At onset, sJIA pathogenesis resembles that of the autoinflammatory periodic fever syndromes with marked innate immune activation, expansion of neutrophils and monocytes, and high levels of interleukin-18. Here, we review the current conceptual understanding of sJIA pathogenesis with a focus on both innate and adaptive immune pathways. Finally, we consider how recent progress toward understanding the immunologic basis of sJIA m...
Source: Rheumatic Disease Clinics of North America - July 21, 2023 Category: Rheumatology Authors: Grant S. Schulert, Christoph Kessel Source Type: research

Type I Interferonopathies
This review will discuss when clinicians should consider evaluating for Type I interferonopathies, review clinical phenotypes and molecular defects of Type I interferonopathies, and discuss current treatments. (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - July 19, 2023 Category: Rheumatology Authors: Christine S. Wang Source Type: research

Therapeutic Advances in Eosinophilic Granulomatosis with Polyangiitis
Eosinophilic granulomatosis with polyangiitis (EGPA) is an eosinophilic vasculitis that affects a variety of organ systems. Historically, glucocorticoids and a variety of other immunosuppressants were used to abrogate the inflammation and tissue injury associated with EGPA. The management of EGPA has evolved greatly during the last decade with the development of novel targeted therapeutics that have resulted in significantly improved outcomes for these patients, with many more novel targeted therapies emerging. (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - June 17, 2023 Category: Rheumatology Authors: Jessica L. Bloom, Carol A. Langford, Michael E. Wechsler Source Type: research

Vasculitis
When asked to create an issue on Vasculitis, Anisha Dua and Eli Miloslavsky not only jumped on the topic with great energy and enthusiasm but also essentially created a masterpiece ahead of schedule! The field is changing rapidly, and the importance of getting this information out is critical. We are especially indebted to our contributors, who have delivered an unbelievably well-documented and scholarly set of reviews addressing the various challenges in diagnosing and managing patients with vasculitis. (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - June 17, 2023 Category: Rheumatology Authors: Michael H. Weisman Tags: Foreword Source Type: research

Vasculitis
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - June 17, 2023 Category: Rheumatology Authors: Eli M. Miloslavsky, Anisha B. Dua Source Type: research

Copyright
ELSEVIER (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - June 17, 2023 Category: Rheumatology Source Type: research

Contributors
MICHAEL H. WEISMAN, MD (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - June 17, 2023 Category: Rheumatology Source Type: research

Contents
Michael H. Weisman (Source: Rheumatic Disease Clinics of North America)
Source: Rheumatic Disease Clinics of North America - June 17, 2023 Category: Rheumatology Source Type: research