Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.
J Clin Immunol
; 40(1): 165-178, 2020 01.
Article
em En
| MEDLINE
| ID: mdl-31760574
ABSTRACT
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.2264CËT 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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Artrite
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Sarcoidose
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Sinovite
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Uveíte
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Receptores de Interferon
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Proteína Adaptadora de Sinalização NOD2
Tipo de estudo:
Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article