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You are here: Home / Articles / Fellows’ Forum Case Report: Autoinflammatory Diseases and Roles of Genetic, Molecular Testing

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

October 17, 2017 • By Mahjabeen Haq, DO, L. Manuela Marinescu, MD, & Qingping Yao, MD, PhD

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

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Explore This Issue
October 2017

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

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Qingping Yao, MD, PhDQingping 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.

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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.

Pages: 1 2 3 | Single Page

Filed Under: Conditions, Systemic Inflammatory Syndromes Tagged With: autoinflammatory disease, case report, Diagnosis, fellow, fever, genetic, polyarthritis, rash, Research, systemic inflammatory syndrome, Yao SyndromeIssue: October 2017

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