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PubMed

Záznam pochází z PubMed

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

Parackova, Zuzana
Autor Parackova, Zuzana Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic. zuzana.parackova@fnmotol.cz
Bloomfield, Marketa
Autor Bloomfield, Marketa 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
Vrabcova, Petra
Autor Vrabcova, Petra Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic
Zentsova, Irena
Autor Zentsova, Irena Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic
Klocperk, Adam
Autor Klocperk, Adam Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic
Milota, Tomas
Autor Milota, Tomas Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic
Svaton, Michael
Autor Svaton, Michael CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
Casanova, Jean-Laurent
Autor Casanova, Jean-Laurent 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
Bustamante, Jacinta
Autor Bustamante, Jacinta 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 Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France
Fronkova, Eva
Autor Fronkova, Eva CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
Sediva, Anna
Autor Sediva, Anna Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague 5, Czech Republic

Journal of clinical immunology. 2020 Jan ; 40 (1) : 165-178. [epub] 20191123

J Clin Immunol
ISSN 1573-2592 | 0271-9142
Zdroj

Jazyk angličtina Země Nizozemsko Médium print-electronic

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz https://www.medvik.cz/link/pmid31760574

PubMed 31760574
DOI 10.1007/s10875-019-00720-6
PII: 10.1007/s10875-019-00720-6
Knihovny.cz E-zdroje

Klíčová slova
Blau syndrome, IFNγ, IFNγR1, MSMD, NOD2, WES, methotrexate,
MeSH
artritida genetika MeSH
dospělí MeSH
lidé MeSH
mladiství MeSH
mutace genetika MeSH
receptor interferonu gama MeSH
receptory interferonů nedostatek genetika MeSH
sarkoidóza genetika MeSH
signální adaptorový protein Nod2 genetika MeSH
synovitida genetika MeSH
uveitida genetika MeSH
Check Tag
dospělí MeSH
lidé MeSH
mladiství MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
kazuistiky MeSH
práce podpořená grantem MeSH
Názvy látek
NOD2 protein, human MeSH Prohlížeč
receptory interferonů MeSH
signální adaptorový protein Nod2 MeSH

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.

CLIP Childhood Leukaemia Investigation Prague Department of Paediatric Haematology and Oncology 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czech Republic

Department of Immunology 2nd Faculty of Medicine Charles University and Motol University Hospital 5 Uvalu 84 15006 Prague 5 Czech Republic

Department of Pediatrics 1st Faculty of Medicine Charles University and Thomayer's Hospital Prague Czech Republic

Howard Hughes Medical Institute New York NY USA

Imagine Institute Paris Descartes University Paris France

Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Necker Hospital for Sick Children Paris France

Pediatric Hematology Immunology Unit Necker Hospital for Sick Children AP HP Paris France

St Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch The Rockefeller University New York NY USA

Study Center for Primary Immunodeficiencies AP HP Necker Children Hospital Paris France

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