Fellows’ Forum Case Report: Autoinflammatory Diseases and Roles of Genetic, Molecular Testing

Mahjabeen Haq, DO, is a rheumatology fellow in the Division of Rheumatology, Allergy and Immunology, Stony Brook University, Stony Brook, N.Y.

L. Manuela Marinescu, MD, is a rheumatologist with Rheumatology Associates of Long Island, N.Y.

Qingping Yao, MD, PhD, is a professor in the Department of Medicine and chief of the Division of Rheumatology, Allergy and Immunology, Stony Brook University, Stony Brook, N.Y.

Acknowledgment

The authors thank Mr. Chenjun Feng, Department of Medicine, Stony Brook University, N.Y., for making the composite Figure 1.

References

1. Yao Q, Zhou L, Cusumano P, et al. A new category of autoinflammatory disease associated with NOD2 gene mutations. Arthritis Res Ther. 2011;13(5):R148.
2. Yao Q, Su LC, Tomecki KJ, et al. Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. J Am Acad Dermatol. 2013;68(4):624–631.
3. Yao Q, Shen M, McDonald C, et al. NOD2-associated autoinflammatory disease: A large cohort study. Rheumatology (Oxford). 2015;54(10):1904–1912.
4. Yao Q, Shen B. A systematic analysis of treatment and outcomes of NOD2-associated autoinflammatory disease. Am J Med. 2017;130(3):365 e13–e18.
5. Yao Q, Lacbawan F, Li J. Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. Semin Arthritis Rheum. 2016;45(5):633–637.
6. Estephan M, Yao Q, Springer J. Case of NOD2-associated autoinflammatory disease successfully treated with sulfasalazine. J Clin Rheumatol. 2017;23(1):58–59.