Mutual alteration of NOD2-associated Blau syndrome and IFN gamma R1 deficiency

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/20:10401038 RIV/00216208:11130/20:10401038 RIV/00064203:_____/20:10401038

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Mutual alteration of NOD2-associated Blau syndrome and IFN gamma R1 deficiency

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Mutual alteration of NOD2-associated Blau syndrome and IFN gamma R1 deficiency

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30102 - Immunology

Projekt

<a href="/cs/project/NV18-05-00162" target="_blank" >NV18-05-00162: Moderní přístupy k primárním imunodeficiencím: uplatnění molekulární a funkční diagnostiky v terapii</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2019

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

JOURNAL OF CLINICAL IMMUNOLOGY

ISSN

0271-9142

e-ISSN

1573-2592

Svazek periodika

Neuveden40

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

14

Strana od-do

165-178

Kód UT WoS článku

000498093500001

EID výsledku v databázi Scopus

2-s2.0-85075376043