Mutual alteration of NOD2-associated Blau syndrome and IFN gamma R1 deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F19%3AN0000018" target="_blank" >RIV/00064190:_____/19:N0000018 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/20:10401038 RIV/00216208:11130/20:10401038 RIV/00064203:_____/20:10401038
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>
Alternative languages
Result language
angličtina
Original language name
Mutual alteration of NOD2-associated Blau syndrome and IFN gamma R1 deficiency
Original language description
Blau syndrome (BS) is an auto-inflammatory granulomatous disease that possibly involves abnormal response to interferon gamma (IFN gamma) 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 IFN gamma. We report a mother and daughter who are both heterozygous for NOD2(c.2264C>T) variant and dominant-negative IFNGR1(818del4) 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 IFN gamma 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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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30102 - Immunology
Result continuities
Project
<a href="/en/project/NV18-05-00162" target="_blank" >NV18-05-00162: Modern approach to the field of primary immunodeficiencies: translating precise molecular and functional diagnosis to therapy</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
JOURNAL OF CLINICAL IMMUNOLOGY
ISSN
0271-9142
e-ISSN
1573-2592
Volume of the periodical
Neuveden40
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
14
Pages from-to
165-178
UT code for WoS article
000498093500001
EID of the result in the Scopus database
2-s2.0-85075376043