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Blau syndrome

Index Blau syndrome

Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. [1]

11 relations: Autosome, Crohn's disease, Genome, Glucocorticoid, Granuloma, Infliximab, List of cutaneous conditions, Mutation, NOD2, Sarcoidosis, Uveitis.

Autosome

An autosome is a chromosome that is not an allosome (a sex chromosome).

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Crohn's disease

Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any part of the gastrointestinal tract from mouth to anus.

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Genome

In the fields of molecular biology and genetics, a genome is the genetic material of an organism.

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Glucocorticoid

Glucocorticoids are a class of corticosteroids, which are a class of steroid hormones.

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Granuloma

Granuloma is an inflammation found in many diseases.

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Infliximab

Infliximab (trade names Remicade among others) is a chimeric monoclonal antibody biologic drug that works against tumor necrosis factor alpha (TNF-α) and is used to treat autoimmune diseases.

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List of cutaneous conditions

Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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NOD2

Nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also known as caspase recruitment domain-containing protein 15 (CARD15) or inflammatory bowel disease protein 1 (IBD1), is a protein that in humans is encoded by the NOD2 gene located on chromosome 16.

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Sarcoidosis

Sarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as granulomas.

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Uveitis

Uveitis is the inflammation of the uvea, the pigmented layer that lies between the inner retina and the outer fibrous layer composed of the sclera and cornea.

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References

[1] https://en.wikipedia.org/wiki/Blau_syndrome

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