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.

• 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