Article
Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.
Frontiers in immunology - 1 Jan 2020
Drabe Camilla Heldbjerg, Marvig Rasmus L, Borgwardt Line, Lundgren Jens D, Maquart Hanne Vibeke Hansen, Katzenstein Terese Lea, Helleberg Marie
Abstract excerpt
A previously healthy 19-year-old Syrian man presented with atypical and severe mucosal leishmaniasis caused by Leishmania tropica. During a 2-year period, he had three severe relapses despite various treatment strategies, including liposomal amphotericin B and Miltefosine. Because of the unusual clinical presentation, potential underlying immunodeficiency was investigated. Normal T and NK cell counts were found....
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