pediatrics
Hyper IgD Syndrome
Diagnosis of Hyper IgD Syndrome
Clinical evaluation Sometimes genetic testing 100 units/L; however, up to 20% of patients have normal serum IgD levels. Nonspecific abnormalities include leukocytosis and elevated acute-phase reactants during fever; elevated urinary mevalonic acid during attacks helps confirm the diagnosis ( Diagnosis reference ). Genetic testing is available but is negative in 25% of patients. 1.Gattorno M, Hofer M, Federici S, et al; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO): Classification criteria for autoinflammatory recurrent fevers.Ann Rheum Dis78(8):1025–1032, 2019. doi: 10.1136/annrheumdis-2019-215048 