Yao syndrome
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Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.
Descrição
Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.
The episodes of fever and inflammation associated with Yao syndrome can last for several days and occur weeks to months apart. During these episodes, most affected individuals develop reddened, inflamed areas on the skin called erythematous patches or plaques. This reddening occurs most commonly on the face, chest, and back but can also affect the arms and legs. Episodes of joint pain and inflammation similar to arthritis are common, particularly in the legs, as is swelling of the ankles and feet. Inflammation also affects the gastrointestinal system, causing attacks of abdominal pain, bloating, and cramping with diarrhea in more than half of affected individuals. Dry eyes and dry mouth (described as "sicca-like" symptoms, which refers to dryness) are reported in about half of people with this disease. Other potential signs and symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of various glands.
Yao syndrome is usually diagnosed in adulthood. It is a long-lasting (chronic) disease, and episodes can recur for many years.
Padrões de herança
The source lists the following possible inheritance patterns: Pattern unknown. More than one pattern can apply in different cases.
Related genes
Other names
NAID
NOD2-associated AID
NOD2-associated autoinflammatory disease
YAOS
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Leitura adicional e referências
- Yao syndrome; MedlinePlus, National Library of Medicine.
- Estephan M, Yao Q, Springer J. Case of NOD2-Associated Autoinflammatory Disease Successfully Treated With Sulfasalazine. J Clin Rheumatol. 2017 Jan;23(1):58-59. doi: 10.1097/RHU.0000000000000468. No abstract available.
- Yao Q, Lacbawan F, Li J. Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. Semin Arthritis Rheum. 2016 Apr;45(5):633-7. doi: 10.1016/j.semarthrit.2015.10.012. Epub 2015 Oct 29.
- Yao Q, Myles J, Shen B, McDonald C. NOD2-associated autoinflammatory disease: an exploratory study of its pathogenesis. Rheumatology (Oxford). 2014 May;53(5):958-60. doi: 10.1093/rheumatology/ket384. Epub 2013 Nov 19. No abstract available.
- Yao Q, Shen B. A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease. Am J Med. 2017 Mar;130(3):365.e13-365.e18. doi: 10.1016/j.amjmed.2016.09.028. Epub 2016 Oct 28.
- Yao Q, Shen M, McDonald C, Lacbawan F, Moran R, Shen B. NOD2-associated autoinflammatory disease: a large cohort study. Rheumatology (Oxford). 2015 Oct;54(10):1904-12. doi: 10.1093/rheumatology/kev207. Epub 2015 Jun 11.
- 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 Apr;68(4):624-631. doi: 10.1016/j.jaad.2012.09.025. Epub 2012 Oct 24.
- 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. doi: 10.1186/ar3462. Epub 2011 Sep 14.
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