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Article

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.

Journal of clinical immunology - 1 Jan 2020

Parackova Zuzana, Bloomfield Marketa, Vrabcova Petra, Zentsova Irena, Klocperk Adam, Milota Tomas, Svaton Michael, Casanova Jean-Laurent, Bustamante Jacinta, Fronkova Eva, Sediva Anna

Abstract excerpt

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...

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Identifiers

PMID: 31760574
DOI: 10.1007/s10875-019-00720-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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