Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F20%3AN0000137" target="_blank" >RIV/00064190:_____/20:N0000137 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1007/s10875-019-00720-6" target="_blank" >http://dx.doi.org/10.1007/s10875-019-00720-6</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10875-019-00720-6" target="_blank" >10.1007/s10875-019-00720-6</a>

Result language
angličtina
Original language name
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency
Original language description
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.
Czech name
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Czech description
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Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
30102 - Immunology

Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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