Genetic Evaluation of Autoinflammatory Diseases

Many pediatric patients with early-onset autoinflammatory disease (AID) phenotypes are mutation-negative for genetically known AIDs. Recent data suggest a role for Type-I interferon (IFN) dysregulation in causing AID phenotypes with clinical features that are distinct from those found in patients with IL-1 mediated AIDs. We screened patients for the presence of an IFN-response gene signature (IRS) to characterize their clinical phenotypes, IFN-related biomarkers, and genetic causes.]]>
Inclusion Criteria Be 2 to 99 years old for participants who will be seen at the NIH CC; be 0 (newborn) to 99 years old for participants who will submit mail-in samples. Is willing to allow storage of biological specimens for future use in medical research. Is willing to allow genetic testing on collected biological samples. Has a primary care or other physician who will manage all health conditions related or unrelated to the study objectives. Has clinical signs or symptoms not explained by any other disorder (eg, infections, malignancies) and are consistent with a possible IL-1 or interferon-mediated autoinflammatory disease. Past or present history of evidence of systemic inflammation (eg, elevation of C-reactive protein [CRP] and/or erythrocyte sedimentation rate [ESR], anemia, thrombocytosis). Exclusion Criteria Presence of conditions that, in the judgment of the investigator, may put the participant at undue risk or make them unsuitable for participation in the study. Oncological evaluation suggestive of lymphoma, leukemia, or multiple myeloma, except for participants with a known primary diagnosis of an autoinflammatory disease who subsequently developed a malignancy; such patients will not be excluded from the study. ]]>