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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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • 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