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Coexistence of Epstein-Barr-Virus infection and Hyper-immunoglobulin D syndrome: A diagnostic dilemma

Nora AlMutari; Suliman AlJummah; Abdullah Alsonbul; Hasan Aldhekri; Sulaiman M Al-Mayouf.

Abstract
Hyper-immunoglobulin D syndrome (HIDS) is a very rare autoinflammatory disease in Arab children. Coexistence of persistent elevated Epstein-Barr virus (EBV) viral load might delay the diagnosis of HIDS. We report two children with periodic fever since infancy and persistent high EBV viral load; the initial comprehensive work-up could not classify these patients into the recognized autoinflammatory diseases or identify an underlying immune deficiency status. Further genetic testing for periodic fever syndromes revealed the presence of V337I mutation in MVK gene.

Key words: Autoinflammatory diseases;familial Mediterranean fever;Hyper-immunoglobulin D syndrome Epstein-Barr-Virus



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