Скачать с ютуб Deficiency of interleukin-1 receptor antagonist DIRA; Causes, symptoms, Diagnosis, Treatment в хорошем качестве

Deficiency of interleukin-1 receptor antagonist DIRA; Causes, symptoms, Diagnosis, Treatment

Deficiency of Interleukin-1 Receptor Antagonist (DIRA) Deficiency of Interleukin-1 Receptor Antagonist (DIRA) is a rare autoinflammatory disorder caused by mutations in the IL1RN gene, leading to uncontrolled IL-1 signaling and systemic inflammation. Pathophysiology IL1RN encodes interleukin-1 receptor antagonist (IL-1Ra), which normally blocks IL-1α and IL-1β activity. Loss of IL-1Ra function results in excessive inflammation, causing severe tissue damage. Affects skin, bones, lungs, and other organs. Clinical Features Neonatal onset of systemic inflammation. Sterile osteomyelitis (bone inflammation without infection). Periostitis (bone pain & swelling due to excessive IL-1 activity). Pustular rash (resembles neonatal pustulosis). Failure to thrive and growth abnormalities. Diagnosis Genetic testing for IL1RN mutations. Elevated inflammatory markers (CRP, ESR, cytokine profiling). Bone imaging (MRI showing osteomyelitis). Treatment IL-1 inhibitors (Anakinra, Canakinumab) to block excessive IL-1 signaling. Corticosteroids & NSAIDs for symptom management. Early treatment prevents irreversible organ damage. #Interleukin