Autoinflammatory diseases, or systemic autoinflammatory diseases (SAIDs), also called periodic fever syndromes, are recently classified rheumatic and inflammatory conditions. Most disorders are hereditary periodic fever syndromes, and some 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
We serve patients with
- Systemic autoinflammatory diseases/Periodic fever syndromes
- Yao syndrome, formerly named NOD2-associated autoinflammatory disease (NAID)
- Familial Mediterranean fever (FMF)
- Cryopyrin-associated periodic syndromes (CAPS)
- NLRP12 autoinflammatory disease
- Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
- Hyperimmunoglobulin D syndrome (HIDS)
- Blau syndrome
- Still’s disease
- Behcet disease
- Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome
- Idiopathic pericarditis
- Undiagnosed fever, rash, joint pain, swelling, or gastrointestinal symptoms
- Proper diagnosis and treatment
- Genetic testing choice and providing faster results at a more reasonable cost
- Genetic counseling
- Scientific research of the diseases
From left to right: Bennadette Maramara, MD, Jeffrey Morganstern, MD, Ayse Bag Ozbek, MD, Asha Patnaik, MD, Apostolos Kontzias, MD,
Qingping Yao, MD, PhD., Ellen Li, MD, PhD, Bradley Morganstern, MD, Grace Gathunga, MD, Joann Salvemini, MD, Julie Cherian, MD
Qingping Yao, MD, PhD, is Professor, Department of Medicine, 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.
Apostolos Kontzias, MD, is associate Professor and vice Director of the Center of Autoinflammatory Diseases at SBUH. He has expertise in care and study of autoinflammatory diseases. He also specializes in idiopathic pericarditis. He served as Staff Rheumatologist and Director of the Clinic for Autoinflammatory Diseases at the Cleveland Clinic from 2013 to 2018. Dr. Kontzias has joined SBUH since June 2018.
Asha Patnaik, MD, Clinical Associate Professor of Medicine, and Ayse Bag Ozbek, MD, Assistant Professor of Medicine, are rheumatologists and members of the Center. Dr. Ozbek has experience in care of patient with FMF when she served as a physician in Turkey.
The Center consists of multidisciplinary collaborators who have subspecialty interests in this group of diseases:
Gastroenterology, Inflammatory Bowel Disease (IBD) Group: Ellen Li, MD, Ph.D is former Chief of the Division of Gastroenterology and Hepatology, Professor of Medicine, Microbiology and Molecular Genetics at SBU. She has expertise in patient care and study of IBD, particularly in view of NOD2-associated gut disease. Dr. Li’s expertise will enhance the patient care and research in the Center. Ramona Rajapakse, MD, associate Professor, Director for IBD Center. Bradley Morganstern, MD, assistant Professor and Dr. JefferyMorganstern, MD, assistant Professor,Farah Monzur, MD, assistant professor, and Grace Gathungu, MD, assistant Professor. Gastrointestinal symptoms are common in SAIDs. These experts will provide prompt specialized care for those in need of such care.
Pediatric Rheumatology: Julie Cherian, MD, is Chief of the Division of Pediatric Rheumatology. She trained as a pediatric rheumatology fellow at Hospital for Special Surgery in New York. She has special interest in pediatric patients with SAIDs and will use her expertise to take care of children with SAIDs.
Infectious Disease: Bennadette Maramara, MD is an Infectious Disease Specialist, assistant Professor at SBUH. Fever is a common feature of SAID patients, and Dr. Maramara’s expertise will help identify and rule out infectious febrile diseases.
Dermatology: Joann Salvemini, MD, Co-director of the Dermatology Inpatient Consult service at SBUH. Rash is a frequent sign or symptom of SAID patients. Dr. Salvemini’s expertise will characterize 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 (Autoimmunity. 2018;51(2):53-61). 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
500 Commack Rd, Ste C
Commack, NY 11725
- 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.