INFLAMMATORY MARKERS IN THE SETTING OF AUTOIMMUNE DISEASE AND RECURRENT INFECTIONS

Abstract

Introduction Crohn's disease is a state of dysregulated intestinal mucosa inflammation, where IFN and IL-12 are the dominant cytokines and inflammatory markers are expected to be elevated. A marked accumulation of macrophages producing IL-12, the major Th1-inducing factor, is often observed. However, genetic variants of Inflammatory Bowel Disease (IBD) may explain symptomatic patients without characteristic inflammatory markers. Case Description A 43-year-old female with immune dysregulation, including Crohn's disease managed with infliximab, psoriasis, and arthralgia treated with methotrexate, presented with recurrent URIs and UTIs. She has family history of autoimmune disease; her father with Crohn's, mother with myasthenia gravis, a sibling who expired around age 30 with suspicion of undiagnosed IBD, and one living, unaffected sibling. She underwent a thorough evaluation of her immune system, including lymphocyte counts, immunoglobulin levels, and antibody titers, with no immunophenotypic evidence of immunodeficiency. Vaccination titers were protective for pneumococcal and HiB. Her inflammatory status was evaluated with a cytokine panel showing positive ANA, elevated TNF-α, IL-2, IL-4, IL-12, and IL-13, but normal ESR, CRP, thrombocytes, and leukocytes. Discussion While the patient's immunodeficiency screen was negative, her recurrent URI infections remain suspicious for an immune dysfunction. Her significant family history of autoimmune disease is concerning for a possible genetic mutation and the patient and her family have expressed interest in participating in a study of genetic variants of IBD. A complicated autoimmune dysregulation could indicate genetic variants of IBD, however, future therapy should be aimed at improving the patient's symptoms of infection, arthralgia, and Crohn's.