article_metadata: Camilla Heldbjerg Drabe Rasmus L Marvig Line Borgwardt Jens D Lundgren Hanne Vibeke Hansen Maquart Terese Lea Katzenstein Marie Helleberg
article_metadata: 10.3389/fimmu.2020.567856
article_metadata: Front Immunol
article_metadata: 2020 Sep 11;11:567856.
article_metadata: diagnostic genetics hyper igm syndrome immunodeficiency leishmaniasis whole genome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33013931/
article_metadata: Hyper-IgM Immunodeficiency Syndrome / diagnosis Hyper-IgM Immunodeficiency Syndrome / etiology Leishmaniasis / diagnosis Leishmaniasis / etiology Mucous Membrane / parasitology Whole Genome Sequencing
article_metadata: Hyper-IgM Immunodeficiency Syndrome / diagnosis Hyper-IgM Immunodeficiency Syndrome / etiology Leishmaniasis / diagnosis Leishmaniasis / etiology Mucous Membrane / parasitology Whole Genome Sequencing Case Reports Research Support, Non-U.S. Gov't Biomarkers Biopsy CD40 Ligand / genetics DNA Mutational Analysis Endoscopy Humans Hyper-IgM Immunodeficiency Syndrome / complications Immunophenotyping Male Mutation Symptom Assessment Syria T-Lymphocytes / immunology T-Lymphocytes / metabolism Young Adult Biomarkers CD40 Ligand
article_metadata: PMC7516301
article_metadata: 33013931
article_metadata: Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis
article_metadata: 2020