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Coatomer subunit α (COPA) syndrome is a mendelian autosomal dominant immune dysregulation disease characterized by early onset lung disease in the form of diffuse alveolar hemorrhaging or interstitial lung disease, frequently associated with arthritis, glomerulonephritis, and high titer autoantibodies usually mimicking other autoimmune diseases. While immunosuppressive medication has been effective in controlling arthritis, data on long-term lung disease control remains scarce, which poses a real challenge as the progression of lung disease is the main cause of poor life expectancy in COPA patients. Nevertheless, JAK inhibitor therapy seems to be the most promising therapeutic choice now. [ABSTRACT FROM AUTHOR]

Biological therapy is used in a wide range of medical settings. Adverse reactions to biological therapy can limit their widespread use, so early detection and treatment can adjust attempts to stop these molecules. TNF Alpha blockers may cause the following skin reactions in alpha patients: injection site reactions, infections, immune-mediated reactions (psoriasis, psoriasis, drug-induced lupus, vasculitis, hidradenitis, alopecia), allergic or neoplastic reactions. We present the case of a patient with RA who developed skin lesions during biological therapy and was diagnosed with drug-induced lupus based on clinical elements, associated autoimmunity, and dermatological evaluation. The skin lesions were attributed to the interaction of three medications (biosimilar Etanercept, Leflunomide, and Isoniazid), all of which have been implicated in causing these side effects. The solutions that saved the patient were temporarily discontinuing the immunosuppressive medication and replacing it with a local corticoid, followed by the continuation of Etanercept in associated with Methotrexate, and the patient was able to continue the biological medication and obtain a favorable response to the treatment. In conclusion, skin changes caused by TNF Alpha inhibitors are common, but vary in severity, and do not warrant therapy interruption. [ABSTRACT FROM AUTHOR]

The newly identified refractory adult-onset autoinflammatory syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is brought on by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem and progenitor cells that change the expression of the UBA1 isoform. As a result, patients have a variety of hematologic and systemic inflammatory symptoms. All types of medical professionals should treat VEXAS syndrome seriously due to the high fatality rate. To better comprehend the condition and enhance the prognosis for VEXAS syndrome, this review article describes the essential traits and clinical signs of the condition. The discussion of future directions in the study of systemic inflammatory disorders brought on by somatic mutations concludes., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Padureanu et al.)