4.2 Article

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome

Related references

Note: Only part of the references are listed.
Review Allergy

Distinguishing Blau Syndrome from Systemic Sarcoidosis

Katherine P. Kaufman et al.

Summary: This review provides a framework to differentiate between Blau syndrome/Early Onset Sarcoidosis and Sarcoidosis clinically, discussing relevant differences in genetics, pathogenesis, and management. It emphasizes the importance of distinguishing between these diseases for prognosis and outcomes.

CURRENT ALLERGY AND ASTHMA REPORTS (2021)

Article Pediatrics

A novel mutation in early-onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes

Fumiko Okazaki et al.

Summary: The case presented a patient with EOS/BS carrying a novel D512V mutation in the NOD2 gene. In refractory granulomatous panuveitis cases without joint involvement, EOS/BS should be considered as a differential diagnosis; genetic analyses would lead to a definite diagnosis. Furthermore, this is the first report of P. acnes demonstrated in granulomas of EOS/BS.

PEDIATRIC RHEUMATOLOGY (2021)

Article Genetics & Heredity

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome

Filipa G. Rodrigues et al.

Summary: Blau syndrome is a rare dominantly-inherited autoinflammatory disorder characterized by the triad of arthritis, uveitis, and dermatitis. We reported a family with two affected members in consecutive generations with childhood onset arthritis and uveitis, and identified a novel pathogenic NOD2 variant. This finding may have implications in the treatment of BS and other inflammatory granulomatous diseases.

OPHTHALMIC GENETICS (2021)

Review Ophthalmology

Ocular manifestations of Blau syndrome

Sandip Suresh et al.

CURRENT OPINION IN OPHTHALMOLOGY (2020)

Review Allergy

Cutaneous Granulomatosis: a Comprehensive Review

Benedetta Terziroli Beretta-Piccoli et al.

CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2018)

Article Allergy

Pluripotent stem cell models of Blau syndrome reveal an IFN-gamma-dependent inflammatory response in macrophages

Sanami Takada et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)

Article Multidisciplinary Sciences

Crystal structure of NOD2 and its implications in human disease

Sakiko Maekawa et al.

NATURE COMMUNICATIONS (2016)

Article Biochemistry & Molecular Biology

Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators

Rhiannon Parkhouse et al.

FEBS LETTERS (2014)

Review Immunology

NOD1 and NOD2: Signaling, Host Defense, and Inflammatory Disease

Roberta Caruso et al.

IMMUNITY (2014)

Review Pediatrics

Blau Syndrome, the prototypic auto-inflammatory granulomatous disease

Carine H. Wouters et al.

PEDIATRIC RHEUMATOLOGY (2014)

Review Immunology

Blau syndrome, clinical and genetic aspects

Paolo Sfriso et al.

AUTOIMMUNITY REVIEWS (2012)

Article Biochemistry & Molecular Biology

Proteasomal Degradation of Nod2 Protein Mediates Tolerance to Bacterial Cell Wall Components

Kyoung-Hee Lee et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Rheumatology

The NOD2 Defect in Blau Syndrome Does Not Result in Excess Interleukin-1 Activity

Tammy M. Martin et al.

ARTHRITIS AND RHEUMATISM (2009)

Article Genetics & Heredity

The infevers autoinflammatory mutation online registry: Update with new genes and functions

Florian Milhavet et al.

HUMAN MUTATION (2008)

Review Cell Biology

Mammalian NLR proteins; discriminating foe from friend

Maria Kaparakis et al.

IMMUNOLOGY AND CELL BIOLOGY (2007)

Review Immunology

Signalling pathways and molecular interactions of NOD1 and NOD2

W Strober et al.

NATURE REVIEWS IMMUNOLOGY (2006)

Article Gastroenterology & Hepatology

TNF-α and IFN-γ regulate the expression of the NOD2 (CARD15) gene in human intestinal epithelial cells

P Rosenstiel et al.

GASTROENTEROLOGY (2003)

Article Genetics & Heredity

CARD15 mutations in Blau syndrome

C Miceli-Richard et al.

NATURE GENETICS (2001)

Article Biochemistry & Molecular Biology

Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-κB

Y Ogura et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)