Blau syndrome

Edward Blau
Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints.wikipedia
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NOD2

CARD15NOD-2NOD2 (CARD15) gene
It is caused by a mutation in the NOD2 (CARD15) gene.
Mutations in this gene have been associated with Crohn's disease, Blau syndrome, severe pulmonary sarcoidosis and Graft-versus-host disease.

List of skin conditions

List of cutaneous conditionsList of skin diseasesskin conditions
* List of cutaneous conditions

Autosome

autosomalautosomal DNAautosomes
Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints.

Mutation

mutationsgenetic mutationmutated
It is caused by a mutation in the NOD2 (CARD15) gene.

Sarcoidosis

pulmonary sarcoidosissarcoidBoeck's sarcoid
Symptoms usually begin before the age of 4, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis.

Uveitis

iritisiridocyclitisanterior uveitis
Symptoms usually begin before the age of 4, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis.

Glucocorticoid

glucocorticoidssteroidssteroid
Treatment has included the usual anti inflammatory drugs such as adrenal glucocorticoids, anti-metabolites and also biological agents such as anti-TNF and infliximab all with varying degrees of success.

Infliximab

RemicadeInflectraRemsima
Treatment has included the usual anti inflammatory drugs such as adrenal glucocorticoids, anti-metabolites and also biological agents such as anti-TNF and infliximab all with varying degrees of success.

Granuloma

granulomatousgranulomasgranulomatous inflammation
In 1985 Edward Blau, a pediatrician in Marshfield, Wisconsin, reported a family that over four generations had granulomatous inflammation of the skin, eyes and joints.

Genome

genomesgenetic materialgenomic
In 1996 Tromp et al. conducted a genome wide search using affected and non affected members of the original family.

Crohn's disease

Crohn’s diseaseCrohn diseaseCrohn
They commented in their article that mutations in CARD15 had also been found in Crohn's disease.

NOD-like receptor

Nod-like receptorsNOD-like receptors (NLRs)(NOD)-like receptor
Mutations in NOD2 are associated with Crohn's disease or Blau syndrome.

Chronic recurrent multifocal osteomyelitis

This particular classification encompasses both hereditary types (familial Mediterranean fever, mevalonate kinase deficiency, TNF receptor associated periodic syndrome, cryopyrin-associated periodic syndrome, Blau syndrome, pyogenic sterile arthritis, pyoderma gangrenosum and acne syndrome, CRMO) and multifactorial disorders (Crohn's and Behçet's diseases).