Center Of Autoinflammatory Diseases

Autoinflammatory diseases, or systemic autoinflammatory diseases (SAIDs), including periodic fever syndromes, are recently classified rheumatic and inflammatory conditions. Typical disorders are hereditary periodic fever syndromes, and some SAIDs are polygenic or genetically complex diseases. SAIDs are distinct from systemic autoimmune diseases like lupus or rheumatoid arthritis. Typically patients with SAIDs do not have blood markers like autoantibodies (ANAs). This group of disorders is rapidly expanding in the field of rheumatology. Proper diagnosis and management of these diseases require expertise and clinical experience as they can be complex and challenging for physicians, and patients often struggle to find specialized care for these conditions. For the purpose of providing specialized service, high quality of care and help for those who need such special care, we have created the Center of Autoinflammatory Diseases at Stony Brook University Hospital (SBU). The Center is part of the Department of Medicine and one of the few Centers in the United States to offer expert knowledge and management of these disorders, supported by multidisciplinary care and groundbreaking research. Molecular genetic analysis is often involved in the diagnosis of the diseases.

Hear from Our Center Directors and Patients

Meet Center Directors, Qingping Yao, MD, PhD and Apostolos Kontzias, MD Meeting the Center Director, Qingping Yao
Meet Patient Alisha Briggs Meet Patient Alisha Briggs
Meet Patient Andrea Atkins Meet Patient Andrea Atkins
 

We serve patients with:

  • Systemic autoinflammatory diseases
  • Periodic fever syndromes
  • Yao syndrome, formerly named NOD2-associated autoinflammatory disease
  • Familial Mediterranean fever (FMF)
  • Cryopyrin-associated periodic syndromes (CAPS) or NLRP3-associated autoinflammatory disease
  • NLRP12 autoinflammatory disease or familial cold autoinflammatory syndrome type 2(FCAS2)
  • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
  • Hyperimmunoglobulin D syndrome (HIDS) or mevalonate kinase deficiency
  • Blau syndrome
  • Still’s disease
  • Behcet disease
  • Crohn’s disease with periodic fever syndrome gene markers including MEFV, NOD2 and/or NLRP12 variants
  • Idiopathic pericarditis
  • Undiagnosed fever, rash, joint pain, swelling, or gastrointestinal symptoms

Our services:

  • Proper diagnosis and treatment
  • Genetic testing choice and providing faster results at a more reasonable cost
  • Genetic counseling
  • Scientific research of the diseases

Our expertise:

Qingping Yao, MD, PhD, is Professor, Zhang Family Endowed Chair in Rheumatology, and Chief of the Division of Rheumatology, Allergy and Immunology, and Director of the Center of Autoinflammatory Diseases at SBUH. Dr. Yao has authored numerous publications about autoinflammatory diseases and is a member of the International Society of Systemic Autoinflammatory Diseases (ISSAID). Dr. Yao served as a senior rheumatologist at the Cleveland Clinic from 2008 to 2015 and identified a new disease, Yao syndrome (OMIM 617321) (Am J Med), formerly designated as NOD2-associated autoinflammatory disease (J Am Acad Dermatol). He successfully managed the multidisciplinary Clinic for Adult Autoinflammatory Diseases at the Cleveland Clinic. Since joining SBU, Dr. Yao has received numerous patient referrals from across the US and Canada due to his expertise and reputation in the field.

Peter Gorevic, MD, is a board certified Rheumatologist, and Allergist/Immunologist. He is an Emeritus Professor of Medicine, former Chief of the Division of Allergy, Immunology and Rheumatology, Stony Brook University, former Chief of the Division of Rheumatology, Icahn School of Medicine at Mount Sinai in New York. Dr. Gorevic has been recognized as an international authority in amyloidosis and related diseases including autoinflammatory disease.

Brianne Navetta-Modrov, MD, is an Allergist/Immunologist, Assistant Professor of Clinical Medicine, Division of Rheumatology, Allergy and Immunology, Department of Medicine, Stony Brook University. She has a special interest in patients who have allergic phenomena and may carry periodic fever syndrome gene markers. She has experience and expertise in the diagnosis and management of SAIDs.

Asha Patnaik, MD, Ayse Bag Ozbek, MD, Saika Sharmeen, DO, Jane Metzger, DO are Rheumatologists, Associate and Assistant Professors, and members of the Center. They have interests in care for patients with SAIDs.

The Center consists of multidisciplinary collaborators who have subspecialty interests in this group of diseases.

Gastroenterology: Olga Aroniadis, MD, MSc, FACG, is Chief of the Division of Gastroenterology and Hepatology, Associate Professor of Medicine, Director, Masters in Epidemiology and Clinical Research, Program in Public Health, Renaissance School of Medicine at Stony Brook University. She has a special interest in care and study of SAID patients as most patients with SAIDs have gastrointestinal symptoms.

Pediatric Rheumatology: Julie Cherian, MD, is Chief of the Division of Pediatric Rheumatology. And Associate Professor of Pediatrics. She has interest in pediatric patients with SAIDs and has expertise to take care of children with SAIDs.

Infectious Disease: Luis Marcos, MD, is an Infectious Disease Specialist, Associate Professor of Medicine at SBUH. Fever is a common feature of SAID patients, and Dr. Marcos has expertise in care and study of Lyme disease that can be confused with autoinflammatory diseases

Dermatology: Joann Salvemini, MD, Director of the Dermatology Inpatient Consult Service at SBUH. Rash is a frequent sign of SAID patients. Dr. Salvemini has provided expertise in characterization of and care for the rash from dermatologic perspective.

Ultimate Goals of the Center:

Our goals are to provide excellent patient care for those who are in such special needs, to perform advanced study of the diseases, and to identify effective treatment or cure. Our research of these diseases is broad, including Yao syndrome. The disease is not uncommon clinically, and patients generally suffer from recurrent fever, rash, arthritis, abdominal pain/diarrhea and sicca-like symptoms. A diagnosis of the syndrome is made based upon such clinical presentations and genetic testing for NOD2 variants. These patients often experienced duplication of unnecessary testing.  Our published translational study results are encouraging. We hope that future funding, including philanthropic donations will be able to move our exciting research to a higher level. For those who are willing to help advance our missions and make a difference, please visit the website for making donations.

For appointments and patient care questions, please contact Rheumatology Clinics at Stony Brook University Hospital

26 Research Way
East Setauket, NY 11733
Tel.631-444-0580

500 Commack Rd, Ste C
Commack, NY 11725
Tel. 631-638-0160

Selected Publications:

Yao Syndrome by Yao Q: Pathophysiology, Diagnosis, and Management. Book: Autoinflammatory Syndromes edited by Petros Efthimiou, Springer, 2019.

Autoinflammatory diseases by Shen M, Wu D and Yao Q. Book: Absolute Rheumatology edited by Petros Efthimiou, Springer, 2020.

Autoinflammatory diseases by Navetta-Modrov B, Kontzias A and Yao Q. Book: Rheumatology for Primary Care Providers edited by Yusaf Ali, Springer, 2021.

Rivera EG, Patnaik A, Salvemini J, Jain S, Lee K, Lozeau D, Yao Q.
SARS-CoV-2/COVID-19 and its relationship with NOD2 and ubiquitination. Clin Immunol. 2022 May;238:109027. doi: 10.1016/j.clim.2022.109027. Epub 2022 May 2.

Yao, Qingping. "Systemic autoinflammatory disease and genetic testing" Rheumatology and Immunology Research, vol. 2, no. 4, 2021, pp. 209-211. https://doi.org/10.2478/rir-2021-0028

Wu, Di, Shen, Min and Yao, Qingping. "Cutaneous manifestations of autoinflammatory diseases" Rheumatology and Immunology Research, vol. 2, no. 4, 2021, pp. 217-225. https://doi.org/10.2478/rir-2021-0030

Navetta-Modrov, Brianne and Yao, Qingping. "Macroglobulinemia and autoinflammatory disease" Rheumatology and Immunology Research, vol. 2, no. 4, 2021, pp. 227-232. https://doi.org/10.2478/rir-2021-0031

Yao, Qingping, Shen, Min and Gorevic, Peter. "NOD2 versus MEFV: Differential diagnosis of Yao syndrome and familial Mediterranean fever" Rheumatology and Immunology Research, vol. 2, no. 4, 2021, pp. 233-239. https://doi.org/10.2478/rir-2021-0032

Yao Q, Apostolos Kontzias. Expansion of phenotypic and genotypic spectrum of YAO syndrome: a case series. J Clin Rheumatol Dec 24, 2020

Yao Q. Research letter: Effectiveness of canakinumab for the treatment of Yao syndrome. J Am Acad Dermatol. 2019 Sep 18. pii: S0190-9622(19)32757-4. doi: 10.1016/j.jaad.2019.09.020

Yao Q, Li E, Shen B. Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine. Autoimmunity. 2019 May 13:1-9. doi: 10.1080/08916934.2019.1613382

McDonald C, Shen M, Johnson EE, Kabi A, Yao Q. Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome. Autoimmunity. 2018;51(2):53-61

Li H, Abramova I, Chesoni S, Yao Q. Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease. Clin Rheumatol. 2018 Jun 17. doi: 10.1007/s10067-018-4178-z. [Epub ahead of print]

Hua Y, Shen M, McDonald C, Yao Q. Autophagy dysfunction in autoinflammatory diseases. J Autoimmun. 2018;88:11-20.

Yao Q, Shen B. A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease. Am J Med. 2016 Oct 28. pii: S0002-9343(16)31063-4. doi: 10.1016/j.amjmed.2016.09.028. [Epub ahead of print

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):633-7

Yao Q, Furst DE. Autoinflammatory diseases: an update of clinical and genetic aspects.

Rheumatology (Oxford). 2008; 47(7):946-51.

Yao Q, Shen M, McDonald C, Lacbawan F, Moran R, Shen B. NOD2-associated autoinflammatory disease: a large cohort study. Rheumatology (Oxford). 2015; 54(10):1904-12

Yao Q. Nucleotide-binding oligomerization domain containing 2: structure, function, and diseases. Semin Arthritis Rheum. 2013; 43(1):125-30.

Yao Q, Su LC, Tomecki KJ, Zhou L, Jayakar B, Shen B. Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations.

J Am Acad Dermatol. 2013; 68(4):624-31.

Yao Q, Shen M, Fernandez J. NOD2-associated autoinflammatory disease and immune deficiency. J Allergy Clin Immunol Pract. 2016; 4(4):780-2.

Estephan M, Yao Q, Springer J. Case of NOD2-Associated Autoinflammatory Disease Successfully Treated With Sulfasalazine. J Clin Rheumatol. 2017; 23(1):58-59. doi: 10.1097/RHU.0000000000000468.

Shen M, Tang L, Shi X, Zeng X, Yao Q. NLRP12 autoinflammatory disease: a Chinese case series and literature review. Clin Rheumatol. 2016 Sep 16. [Epub ahead of print]

Yao Q, Zhou L, Cusumano P, Bose N, Piliang M, Jayakar B, Su LC, Shen B.

A new category of autoinflammatory disease associated with NOD2 gene mutations.

Arthritis Res Ther. 2011; 13(5):R148.

Lenert A, Yao Q. Macrophage activation syndrome complicating adult onset Still's disease: A single center case series and comparison with literature. Semin Arthritis Rheum. 2016; 45(6):711-6

Yao Q, Myles J, Shen B, McDonald C. NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis. Rheumatology (Oxford). 2014; 53(5):958-60.

Yao Q, Ruggieri P, Lowder C. Ocular myositis occurring with NOD2-associated autoinflammatory disease. J Rheumatol. 2013; 40(10):1768-9.

Yao Q, Schils J. Distal lower extremity swelling as a prominent phenotype of NOD2-associated autoinflammatory disease. Rheumatology (Oxford). 2013; 52(11):2095-7.

Yao Q, Piliang M, Nicolacakis K, Arrossi A.Granulomatous pneumonitis associated with adult-onset Blau-like syndrome. Am J Respir Crit Care Med. 2012; 186(5):465-6.

Shen M, Moran R, Tomecki KJ, Yao Q. Granulomatous disease associated with NOD2 sequence variants and familial camptodactyly: An intermediate form of NOD2-associated diseases? Semin Arthritis Rheum. 2015; 45(3):357-60.

Yao Q, Englund KA, Hayden SP, Tomecki KJ.Tumor necrosis factor receptor associated periodic fever syndrome with photographic evidence of various skin disease and unusual phenotypes: case report and literature review. Semin Arthritis Rheum. 2012; 41(4):611-7.

Yao Q, Yerian L, Shen B. Missense mutation V20A in the tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene is associated with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) presenting with periodic gastrointestinal symptoms. Inflamm Bowel Dis. 2011; 17(6):1445-6.

https://www.omim.org/entry/617321

https://ghr.nlm.nih.gov/condition/yao-syndrome

https://www.the-rheumatologist.org/?s=yao+syndrome