Marci D Macaraeg

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Journals/Publications

• Macaraeg, M., Baker, E., Handorf, E., Matt, M., Baker, E. K., Brunner, H., Grom, A. A., Henrickson, M., Huggins, J., Zhang, W., Lee, P., Marsh, R., & Schulert, G. S. (2025). Clinical, Immunologic, and Genetic Characteristics in Patients With Syndrome of Undifferentiated Recurrent Fevers. Arthritis & rheumatology (Hoboken, N.J.), 77(5), 596-605.
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  Syndrome of undifferentiated recurrent fevers (SURF) is characterized by recurrent fevers and autoinflammation without a confirmed molecular diagnosis of a hereditary recurrent fever syndrome, and not fulfilling criteria for periodic fever, adenitis, pharyngitis, aphthous stomatitis syndrome (PFAPA). The goal of this study was to characterize clinical features of patients with SURF compared to patients with PFAPA and to analyze their cytokine signature, genetic variations, and responses to treatment.
• Macaraeg, M., Baker, E., Handorf, E., Matt, M., Baker, E. K., Brunner, H., Grom, A. A., Henrickson, M., Huggins, J., Zhang, W., Lee, P., Marsh, R., & Schulert, G. S. (2025). Clinical, Immunologic, and Genetic Characteristics in Patients With Syndrome of Undifferentiated Recurrent Fevers. Arthritis and Rheumatology, 77(Issue 5). doi:10.1002/art.43065
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  Objective: Syndrome of undifferentiated recurrent fevers (SURF) is characterized by recurrent fevers and autoinflammation without a confirmed molecular diagnosis of a hereditary recurrent fever syndrome, and not fulfilling criteria for periodic fever, adenitis, pharyngitis, aphthous stomatitis syndrome (PFAPA). The goal of this study was to characterize clinical features of patients with SURF compared to patients with PFAPA and to analyze their cytokine signature, genetic variations, and responses to treatment. Methods: We enrolled 46 patients observed at Cincinnati Children's Hospital Medical Center. Baseline data and inflammatory cytokines were collected at enrollment, and their clinical course was followed. Cytokine analysis was performed using a cytokine multiplex assay. Many patients had specific or whole exome genetic testing. Results: The prevalence of rash and arthralgias were higher in patients with SURF compared to patients with PFAPA. Pharyngitis and adenopathy were less frequent. A subset of patients with SURF clustered together with elevated proinflammatory cytokines and more frequently required biologic therapy. Focused analysis of whole exome sequencing data revealed that variants of unknown clinical significance (VUCS) were frequently identified in genes implicated in B cell development, immunodeficiencies, and inflammatory bowel disease risk. Treatments for patients with SURF commonly included on-demand steroids, colchicine, and anti–interleukin-1 therapy. Conclusion: Our findings suggest SURF is a heterogeneous group but has distinct clinical and immunologic features from disorders such as PFAPA. Patients have frequent VUCS, which may have relevance to disease pathogenesis. A subset of patients showed more inflammation and an increased need for biologic therapy. Further research is necessary to define whether there exist distinct SURF endotypes and to better predict treatment outcomes.
• Macaraeg, M., & Schulert, G. S. (2023). Complications of complications: Diagnosis and treatment of recurrent macrophage activation syndrome in a patient with well-controlled systemic juvenile idiopathic arthritis. RMD Open, 9(Issue 1). doi:10.1136/rmdopen-2022-002611
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  Macrophage activation syndrome (MAS) is a subtype of haemophagocytic lymphohistiocytosis (HLH), and a well-described complication of systemic juvenile idiopathic arthritis (SJIA), triggered by disease onset or flare, infection, or some medications. Here, we report a 20-year-old man with previously well-controlled SJIA, who developed first time MAS after acute Epstein-Barr virus (EBV) infection, with MAS recurrence due to a drug reaction, 3-week sulfasalazine syndrome', secondary to prophylactic trimethoprim/sulfamethoxazole. Both episodes of MAS were minimally responsive to pulse corticosteroids. Initial EBV-driven MAS was treated with multiple doses of emapalumab prior to resolution, while MAS secondary to sulfasalazine-induced 3-week syndrome required the initiation of ruxolitinib. This case exhibits two rare but life-threatening causes of MAS/secondary HLH in a single patient and the difficulties in their diagnosis and management.
• Macaraeg, M., & Schulert, G. S. (2023). Complications of complications: diagnosis and treatment of recurrent macrophage activation syndrome in a patient with well-controlled systemic juvenile idiopathic arthritis. RMD open, 9(1).
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  Macrophage activation syndrome (MAS) is a subtype of haemophagocytic lymphohistiocytosis (HLH), and a well-described complication of systemic juvenile idiopathic arthritis (SJIA), triggered by disease onset or flare, infection, or some medications. Here, we report a 20-year-old man with previously well-controlled SJIA, who developed first time MAS after acute Epstein-Barr virus (EBV) infection, with MAS recurrence due to a drug reaction, '3-week sulfasalazine syndrome', secondary to prophylactic trimethoprim/sulfamethoxazole. Both episodes of MAS were minimally responsive to pulse corticosteroids. Initial EBV-driven MAS was treated with multiple doses of emapalumab prior to resolution, while MAS secondary to sulfasalazine-induced 3-week syndrome required the initiation of ruxolitinib. This case exhibits two rare but life-threatening causes of MAS/secondary HLH in a single patient and the difficulties in their diagnosis and management.
• Macaraeg, M., Proytcheva, M., & Katsanis, E. (2019). Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis. Pediatric Transplantation, 23(Issue 8). doi:10.1111/petr.13587
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  Matched related or unrelated donor allogeneic HCT has occasionally been applied in patients with severe CDA type II and proven to be curative. We report on the first patient with CDA to undergo haploidentical bone marrow transplantation with PT-CY. A 12-year-old boy with severe hemosiderosis, and a, consequently, disturbed BM microenvironment, developed recurrent graft failures and required salvage with two additional haploidentical HCTs. He achieved complete donor chimerism and transfusion independence after the third HCT. Our case underscores the risks associated with performing haploidentical HCT in older pediatric patients with CDA and severe chronic iron overload.
• Macaraeg, M., Proytcheva, M., & Katsanis, E. (2019). Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis. Pediatric transplantation, 23(8), e13587.
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  Matched related or unrelated donor allogeneic HCT has occasionally been applied in patients with severe CDA type II and proven to be curative. We report on the first patient with CDA to undergo haploidentical bone marrow transplantation with PT-CY. A 12-year-old boy with severe hemosiderosis, and a, consequently, disturbed BM microenvironment, developed recurrent graft failures and required salvage with two additional haploidentical HCTs. He achieved complete donor chimerism and transfusion independence after the third HCT. Our case underscores the risks associated with performing haploidentical HCT in older pediatric patients with CDA and severe chronic iron overload.

Poster Presentations

• Caryl, N., Macaraeg, M., Bose, C., Meziab, O., Guerrero, C., Andrews, J. G., Barber, B. J., & Seckeler, M. (2024, November).

  Incidence of Autoimmune Disease in Patients with Congenital Heart Disease

  . American Heart Association 2024 Scientific Sessions. Chicago.