Intact IFN-γR1 Expression and Function Distinguishes Langerhans Cell Histiocytosis From Mendelian Susceptibility to Mycobacterial Disease

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• 作者：Willemijn T. Quispel (1)
  Janine A. Stegehuis-Kamp (1)
  Susy J. Santos (1)
  Annelies van Wengen (2)
  Edward Dompeling (3)
  R. Maarten Egeler (4) (5)
  Esther van de Vosse (2)
  Astrid G. S. van Halteren (1) (6)
  
• 关键词：Langerhans cell histiocytosis ; mendelian susceptibility to mycobacterial disease ; diagnostic approaches ; interferon ; gamma ; interferon ; gamma receptor ; 1 ; autosomal dominant IFN ; γR1 deficiency
• 刊名：Journal of Clinical Immunology
• 出版年：2014
• 出版时间：January 2014
• 年：2014
• 卷：34
• 期：1
• 页码：84-93
• 全文大小：395 KB
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• 作者单位：Willemijn T. Quispel (1)
  Janine A. Stegehuis-Kamp (1)
  Susy J. Santos (1)
  Annelies van Wengen (2)
  Edward Dompeling (3)
  R. Maarten Egeler (4) (5)
  Esther van de Vosse (2)
  Astrid G. S. van Halteren (1) (6)
  
  1. Immunology Laboratory, Willem Alexander Children’s Hospital, Leiden University Medical Center, Leiden, The Netherlands
  2. Department of Infectious diseases, Leiden University Medical Center, Leiden, The Netherlands
  3. Department of Paediatric Pulmonology, Maastricht University Medical Center, Maastricht, The Netherlands
  4. Willem Alexander Children’s Hospital, Leiden University Medical Center, Leiden, The Netherlands
  5. Division of Hematology/Oncology, Hospital for Sick Children/University of Toronto, Toronto, Canada
  6. Department of Pediatrics (WAKZ), Immunology Laboratory, P3-P (P3-36), Leiden University Medical Center, PO Box 9600, 2300 RC, Leiden, The Netherlands
  
• ISSN：1573-2592

文摘

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 in the IFN-γR1 gene, in particular in exon 6, lead to autosomal dominant IFN-γ receptor 1 deficiency (ADIFNGR1) and can mimic LCH. We hypothesized that similar defects might underlie the pathogenesis of LCH. Methods IFN-γR1 expression was immunohistochemically determined at disease onset in biopsies from 11 LCH-patients and four ADIFNGR1-patients. IFN-γR1 function was analyzed in 18 LCH-patients and 13 healthy controls by assessing the IFN-γ-induced upregulation of Fc-gamma-receptor I (FcγRI) expression on monocytes. Pro-inflammatory cytokine production was measured after stimulation of whole blood with LPS and IFN-γ. Exon 6 of the IFN-γR1 gene was sequenced in 67 LCH-patients to determine whether mutations were present. Results IFN-γR1 expression was high in three LCH-affected biopsies, similar to ADIFNGR1-affected biopsies, but varied from negative to moderate in eight other LCH-affected biopsies. No functional differences in IFN-γ signaling were detected between LCH-patients with active or non-active disease and healthy controls. No germline mutations in exon 6 of the IFN-γR1 gene were detected in any of the 67 LCH-patients. Conclusions In contrast to ADIFNGR1-patients, IFN-γ signaling is fully functional in LCH-patients. Either performed before, during or after treatment, these non-invasive functional assays can distinguish LCH-patients from ADIFNGR1-patients and thereby facilitate correct therapy regimens for patients with recurrent osteolytic lesions.