NIH Researchers Identify New Autoinflammatory Disease Tied To Specific Recessive Missense Mutation.

Symptoms included recurrent episodes of high fevers, sideroblastic anemia, and neurologic abnormalities including developmental delay, encephalopathy, optic nerve atrophy, and sensorineural hearing loss. Other manifestations included dysmorphic features and short stature, musculoskeletal symptoms, and inflammatory bowel disease-like gastrointestinal symptoms. Hypogammaglobulinemia also was present, along with deficiency of B cells possibly resulting from a maturation defect of B cells in the bone marrow. Two of the patients died. Systemic inflammation was prominent. The initial cytokine analyses in two of the patients identified high levels of the proinflammatory cytokines interleukin-6 and type 1 interferon, suggesting a possible role for therapeutic targets. http://www.medpagetoday.com/MeetingCoverage/ACR/48757