Camilla Heldbjerg Drabe Rasmus L Marvig Line Borgwardt Jens D Lundgren Hanne Vibeke Hansen Maquart Terese Lea Katzenstein Marie Helleberg
10.3389/fimmu.2020.567856
Front Immunol
2020 Sep 11;11:567856.
diagnostic genetics hyper igm syndrome immunodeficiency leishmaniasis whole genome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/33013931/
Hyper-IgM Immunodeficiency Syndrome / diagnosis Hyper-IgM Immunodeficiency Syndrome / etiology Leishmaniasis / diagnosis Leishmaniasis / etiology Mucous Membrane / parasitology Whole Genome Sequencing
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
PMC7516301
33013931
Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis
2020