loading...| Preferred Name | Blau Syndrome | |
| Synonyms |
PathwayType: signaling PMID: 20052476 CellType: macrophage Notes: Headnote: Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema. The signs and symptoms begin in childhood, usually before the age of 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps which can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by the inflammation of the lining of the joints. This inflammation, known as synovitis, is associated with swelling and joint pain. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (uvea). Autoinflammatory Blau syndrome is associated with NOD2 gene mutations. Signaling description: NOD2 functions as an intracellular receptor for the muramyl dipeptide component of peptidoglycan. The pathogenic mechanism responsible for chronic inflammation that characterizes Blau syndrome may be related to the impaired production of both pro- and anti-inflammatory cytokines. The NOD2 pathway possibly interacts with either TLR2 or TLR4 pathway. NOD2 gene mutations which cause Blau syndrome result in an overactive NOD2 protein. All NOD2 mutations lie close to the ATP-binding site in the NACHT domain. It is believed that they may interfere directly with ATP hydrolysis or interfere indirectly with the conformational switch, suggesting that this would allow excessive signaling due to a reduced disassembly of NOD2 signaling complexes. Outcome effects: The excessive signaling results in constitutively increased NF-kB activation, leading to abnormal inflammatory reaction. However, it is not completely clear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin characteristic of Blau syndrome. Highlighted proteins: Proteins with increased expression or activity are highlighted in red. Mutated genes: Mutated gene is shown in white-out style. Organ_System: hematological system Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-c741164a-5c16-4f88-9873-2a11395376c1 PMID: 17223962 CellType: mast cell NodeType: Pathway CellType: dendritic cell Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X Source: Diseases Description: Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema. Pathway is built manually using published studies. |
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urn:agi-pathway:uuid-c741164a-5c16-4f88-9873-2a11395376c1 |
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PS:PathwayType PS:Description PS:Pathway_Author PS:Link PS:CellType PS:Organ_System PS:PMID PS:NodeType PS:Notes PS:Source |
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PathwayType: signaling PMID: 20052476 CellType: macrophage Notes: Headnote: Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema. The signs and symptoms begin in childhood, usually before the age of 4. A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps which can be felt under the skin. The rash is usually found on the torso, arms, and legs. Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by the inflammation of the lining of the joints. This inflammation, known as synovitis, is associated with swelling and joint pain. Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (uvea). Autoinflammatory Blau syndrome is associated with NOD2 gene mutations. Signaling description: NOD2 functions as an intracellular receptor for the muramyl dipeptide component of peptidoglycan. The pathogenic mechanism responsible for chronic inflammation that characterizes Blau syndrome may be related to the impaired production of both pro- and anti-inflammatory cytokines. The NOD2 pathway possibly interacts with either TLR2 or TLR4 pathway. NOD2 gene mutations which cause Blau syndrome result in an overactive NOD2 protein. All NOD2 mutations lie close to the ATP-binding site in the NACHT domain. It is believed that they may interfere directly with ATP hydrolysis or interfere indirectly with the conformational switch, suggesting that this would allow excessive signaling due to a reduced disassembly of NOD2 signaling complexes. Outcome effects: The excessive signaling results in constitutively increased NF-kB activation, leading to abnormal inflammatory reaction. However, it is not completely clear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin characteristic of Blau syndrome. Highlighted proteins: Proteins with increased expression or activity are highlighted in red. Mutated genes: Mutated gene is shown in white-out style. Organ_System: hematological system PMID: 17223962 CellType: mast cell NodeType: Pathway CellType: dendritic cell Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X Source: Diseases Description: Blau syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies, and exanthema. Pathway is built manually using published studies. |
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| id |
urn:agi-pathway:uuid-c741164a-5c16-4f88-9873-2a11395376c1 |
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| label |
Blau Syndrome |
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uuid-c741164a-5c16-4f88-9873-2a11395376c1 |
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Blau Syndrome |
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urn:agi-folder:hereditary_autoinflammatory_diseases urn:agi-folder:b urn:agi-folder:hematological_system |
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| subClassOf |
urn:agi-folder:hereditary_autoinflammatory_diseases urn:agi-folder:b urn:agi-folder:hematological_system |