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Cmv infection as a possible cause of chronic diarrhea in patient with autosomal recessive hyper ige syndrome; case report

Authors:Shahad Alansari , Basma Abadel , Manal Alasnaj , Intisar Ahmad , Jameel Waly
Int J Biol Med Res. 2023; 14(3): 7624-7625  |  PDF File  |  DOI No.: 11.2023-51633972


Hyper IgE syndrome especially the autosomal recessive genotype caused by DOCK8 mutation is not rare immunodeficiency disorder in Saudi Arabia due to high consanguinity. DOCK8 disruption will alter the normal immune function leading to higher susceptibility to viral infection and allergic diseases. Chronic diarrhea in AR-HIES is extremely rare; thus, we are reporting a 5-year old DOCK8 mutation who had chronic severe diarrhea explained only by cytomegalovirus infection and died despite intensive management.