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Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

Z. Parackova, M. Bloomfield, P. Vrabcova, I. Zentsova, A. Klocperk, T. Milota, M. Svaton, JL. Casanova, J. Bustamante, E. Fronkova, A. Sediva

. 2020 ; 40 (1) : 165-178. [pub] 20191123

Jazyk angličtina Země Nizozemsko

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc21012963

Grantová podpora
NV18-05-00162 MZ0 CEP - Centrální evidence projektů

Blau syndrome (BS) is an auto-inflammatory granulomatous disease that possibly involves abnormal response to interferon gamma (IFNγ) due to exaggerated nucleotide-binding oligomerization domain containing 2 (NOD2) activity. Mendelian susceptibility to mycobacterial diseases (MSMD) is an infectious granulomatous disease that is caused by impaired production of or response to IFNγ. We report a mother and daughter who are both heterozygous for NOD2c.2264C˃T variant and dominant-negative IFNGR1818del4 mutation. The 17-year-old patient displayed an altered form of BS and milder form of MSMD, whereas the 44-year-old mother was completely asymptomatic. This experiment of nature supports the notion that IFNγ is an important driver of at least some BS manifestations and that elucidation of its involvement in the disease immunopathogenesis may identify novel therapeutic targets.

Citace poskytuje Crossref.org

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$a Bloomfield, Marketa $u Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic ; Department of Pediatrics, 1st Faculty of Medicine Charles University and Thomayer's Hospital, Prague, Czech Republic
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$a Vrabcova, Petra $u Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic
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$a Casanova, Jean-Laurent $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France ; Imagine Institute, Paris Descartes University, Paris, France ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA ; Howard Hughes Medical Institute, New York, NY, USA ; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France
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