Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency.

Frontiers in Immunology
Laura DottaRaffaele Badolato

Abstract

Interferon-γ receptor 1 (IFNγR1) deficiency is one of the inborn errors of IFN-γ immunity underlying Mendelian Susceptibility to Mycobacterial Disease (MSMD). This molecular circuit plays a crucial role in regulating the interaction between dendritic cells (DCs) and T lymphocytes, thus affecting DCs activation, maturation, and priming of T cells involved in the immune response against intracellular pathogens. We studied a girl who developed at the age of 2.5 years a Mycobacterium avium infection characterized by disseminated necrotizing granulomatous lymphadenitis, and we compared her findings with other patients with the same genetic condition. The patient carried a heterozygous 818del4 mutation in the IFNGR1 gene responsible of autosomal dominant (AD) partial IFNγR1 deficiency. During the acute infection blood cells immunophenotyping showed a marked reduction in DCs counts, including both myeloid (mDCs) and plasmacytoid (pDCs) subsets, that reversed after successful prolonged antimicrobial therapy. Histology of her abdomen lymph node revealed a profound depletion of tissue pDCs, as compared to other age-matched granulomatous lymphadenitis of mycobacterial origin. Circulating DCs depletion was also observed in another patient ...Continue Reading

References

Oct 1, 1994·The Journal of Experimental Medicine·C CauxJ Banchereau
Dec 26, 1996·The New England Journal of Medicine·M J NewportM Levin
May 15, 2002·Nature Immunology·Maryam AfkarianKenneth M Murphy
Oct 24, 2002·Blood·Kelli P A MacDonaldDerek N J Hart
Nov 11, 2003·The Journal of Immunology : Official Journal of the American Association of Immunologists·Sathit PichyangkulDaniel H Libraty
Jan 9, 2004·Nature·Thorsten R MempelUlrich H Von Andrian
Feb 27, 2004·Immunology and Cell Biology·Georg BehrensWilliam R Heath
Dec 21, 2004·Springer Seminars in Immunopathology·Esther C de JongMartien L Kapsenberg
Dec 29, 2004·Journal of Clinical Immunology·Jennifer S FinkeRalph M Steinman
Sep 5, 2006·The Journal of Immunology : Official Journal of the American Association of Immunologists·Francesc MiroClaire Hivroz
Jul 16, 2010·Blood·Loems Ziegler-HeitbrockManfred B Lutz
Oct 26, 2010·Immunological Reviews·Stephanie S Watowich, Yong-Jun Liu
Jan 12, 2011·Annual Review of Immunology·Boris ReizisVanja Sisirak
Jan 27, 2011·Human Molecular Genetics·Ithaisa SologurenCarlos Rodríguez-Gallego
Apr 29, 2011·The New England Journal of Medicine·Sophie HambletonPhilippe Gros
Oct 27, 2016·Current Opinion in Allergy and Clinical Immunology·Venetia BigleyMatthew Collin
Jan 10, 2018·Immunology·Matthew Collin, Venetia Bigley
Sep 29, 2018·Immunology and Cell Biology·Jérémie RosainJacinta Bustamante
Dec 24, 2018·Science Immunology·Rubén Martínez-BarricarteJean-Laurent Casanova
Dec 24, 2018·Science Immunology·Stéphanie Boisson-DupuisJean-Laurent Casanova
Feb 5, 2019·The Journal of Allergy and Clinical Immunology. in Practice·Laura DottaRaffaele Badolato
Aug 17, 2019·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Juan S Calle-ToroSummer L Kaplan

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Citations

Jun 29, 2021·The Journal of Allergy and Clinical Immunology·Miyuki TsumuraSatoshi Okada

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Methods Mentioned

BETA
PCR
Flow
Assay
ELISA
flow cytometry
biopsy
Fluorescence

Software Mentioned

GraphPad Prism
GraphPad
FlowJo

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