Investigation of the Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease and Related Inflammatory Conditions
Background: Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still s disease (AOSD). Their causes are unknown. Researchers want to learn more about these conditions. This includes genetic changes and environmental factors.
Objective: To study sJIA and AOSD in children and adults over time.
Eligibility: People with known or suspected sJIA, AOSD, or similar inflammatory condition
Design: Participants will be screened with a phone call. Participants will have 1 visit. It may be outpatient or they may be admitted to the clinic. The visit may last up to 5 days. Participants will have: * Medical history * Physical exam * Musculoskeletal exam * Questions about overall health and quality of life, disease activity, functional status, and cognitive ability. Participants may also have: * Pictures taken of their skin, joints, or spine * Blood, urine, and stool tests * Scans or X-rays of joints with arthritis * Chest X-ray * Heart tests * Skin biopsy. The skin will be numbed. The top layers of a small area will be scraped off. Participants who have a joint aspiration may provide a fluid sample. The joint will be prepared, then fluid is removed by needle. A corticosteroid may be injected. Participants who have a bone marrow biopsy may provide sample cells. Participants may be seen by NIH specialists. Members of the participant s family and healthy volunteers may give blood or saliva samples for genetic testing. Participants may repeat some study tests every 6 months.
• Affected subject:
• Patients with signs and symptoms of sJIA will be classified as outlined in Diagnosis/Classification Criteria.
∙ Patients less than 16 years of age will be considered to have sJIA if they meet the ILAR criteria for sJIA.
‣ Patients 16 years of age and older will be considered to have sJIA if they have previously met ILAR criteria for sJIA.
• Patients with signs and symptoms of AOSD will be classified as outlined in Yamaguchi Criteria for diagnosing Adult-Onset Still's Disease.
∙ Patients 16 years of age and older will be considered to have AOSD if they meet the Yamaguchi criteria for AOSD (including a negative ANA and RF).
‣ Patients may be considered to have a diagnosis of AOSD if they met criteria for diagnosis in the past but do not still have present evidence of disease.
‣ Pregnant people with still's disease are allowed to enroll. Pregnant people will not be asked to submit to a skin biopsy or bone marrow aspiration.
• The minimum age for participation in this study is between 0 and older.
• Healthy Subjects:
⁃ Healthy Volunteers related to individuals included under items 1 and 2 above will be enrolled.
⁃ Unrelated healthy volunteers will be enrolled for clinical, cellular, molecular, and biochemical assays, and genetic evaluation. Individuals who undergo phlebotomy specifically to provide a control specimen will include both pediatric and adult patients and will not be pregnant.
⁃ Healthy Volunteer should not have any history of autoimmune, autoinflammatory, rheumatic or proliferative/malignant disease or any unexplained inflammatory signs/symptoms or conditions (applies to unrelated).
∙ The minimum age for participation in this study under this cohort is 2 years.