Article
Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.
Journal of clinical immunology - 1 Jan 2014
Quispel Willemijn T, Stegehuis-Kamp Janine A, Santos Susy J, van Wengen Annelies, Dompeling Edward, Egeler R Maarten, van de Vosse Esther, van Halteren Astrid G S
Abstract excerpt
PURPOSE: Poly-ostotic Langerhans Cell Histiocytosis (LCH) can be difficult to distinguish clinically and histologically from disseminated infection in manifesting specific subtypes of Mendelian Susceptibility to Mycobacterial Disease (MSMD). In MSMD-patients, dominant negative germline mutations...
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