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Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Seppänen MR, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I (October 2022). "The 2022 Update of IUIS Phenotypical
Classification for Human Inborn
220:
Then in 1990 Pastores et al. reported a kindred with a phenotype very similar to what Blau described and suggested that the condition be called Blau syndrome. They also pointed out the similarities in the families noted above to Blau syndrome but also pointed out the significant differences in the
232:
of 3.75 and put the Blau syndrome susceptibility locus within the 16p12-q21 interval. Hugot et al. found a susceptibility locus for Crohn disease, a granulomatous inflammation of the bowel, on chromosome 16 close to the locus for BS. Based on the above information Blau suggested in 1998 that the
118:
is another characteristic feature; tendon sheaths appear enlarged on examination; most often the extensor tendons of the wrist, the pes anserinus, peroneal, and flexor tibialis tendon sheaths are affected. Skin rash is typically the first symptom to appear, usually in the first year of life. The
147:, such as NOD2, to induce signaling pathways that activate cytokine responses and protect the organism. In Blau syndrome, the genetic defect seems to lead to overactivation and poor control of the inflammatory response leading to widespread granulomatous inflammation and tissue damage.
216:
inflammation of the skin, eyes and joints. The condition was transmitted as an autosomal dominant trait. In the same year Jabs et al. reported a family that over two generations had granulomatous synovitis, uveitis and cranial neuropathies.
119:
most frequent appearance is that of an erythematous maculo-micropapular fine scaly rash on the trunk and extremities. Uveitis presents as an insidious granulomatous iridocyclitis with posterior uveitis in 60–80% of patients.
236:
Finally in 2001 Miceli-Richard et al. found the defect in Blau syndrome to be in the nucleotide-binding domain of CARD15/NOD2. They commented in their article that mutations in CARD15 had also been found in
926:
Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, and Punzi L; Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.
206:
In 1981, Malleson et al. reported a family that had autosomal dominant synovitis, camptodactyly, and iridocyclitis. One member died of granulomatous arteritis of the heart and aorta.
579:
mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy".
896:
Mutations in
Familial Granulomatous Syndromes: A Study of the Original Blau Syndrome Kindred and Other Families with Large-Vessel Arteritis and Cranial Neuropathy.
209:
In 1982, Rotenstein reported a family with granulomatous arteritis, rash, iritis, and arthritis transmitted as an autosomal dominant trait over three generations.
766:
Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, and
Bovenmyer DA: Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts.
90:. and is classified as an inborn errors of immunity. Symptoms usually begin before the age of four, and the disease manifests as early onset cutaneous
789:
Tromp G, Kuivaniemi H, Raphael S, et al.: Genetic
Linkage of Familial Granulomatous Inflammatory Arthritis, Skin Rash, and Uveitis to Chromosome 16.
537:
Rotenstein, D; Gibbas, DL; Majmudar, B; Chastain, EA (14 January 1982). "Familial granulomatous arteritis with polyarthritis of juvenile onset".
136:
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155:
The diagnosis of Blau syndrome is made by the presentation of classical clinical features and can be confirmed by genetic testing and
114:. Arthritis typically affects peripheral joints mainly wrists, knees, ankles, and proximal interphalangeal (PIP) joints of the hands.
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Hugot JP, Chamaillard M, Zouali H, et al.: Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
623:
274:
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Miceli-Richard C, Lesage S, Rybojad M, Prieur A-M, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, and Hugot J-P:
575:
Wang, X; Kuivaniemi, H; Bonavita, G; Mutkus, L; Mau, U; Blau, E; Inohara, N; Nunez, G; Tromp, G; Williams, CJ (November 2002). "
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Rotenstein D, Gibbas DL, Majmudar B, and
Chastain EA: Familial Granulomatous Arteritis with Polyarthritis of Juvenile Onset.
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135:
gene has sparked investigation into its function as part of the innate immune system. The innate immune system recognizes
254:
502:
Malleson, P; Schaller, JG; Dega, F; Cassidy, SB; Pagon, RA (September 1981). "Familial arthritis and camptodactyly".
212:
In 1985, Edward Blau, a pediatrician in
Marshfield, Wisconsin, reported a family that over four generations had
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Jabs DA, Houk JL, Bias WB, and Arnett FC: Familial
Granulomatous Synovitis, Uveitis, and Cranial Neuropathies.
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wide search using affected and non affected members of the original family. A marker, D16S298, gave a maximum
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Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, Inohara N, Nunez G, Tromp G, and
Williams CJ:
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Malleson P, Schaller JG, Dega F, Cassidy SB, and Pagon RA : Familial
Arthritis and Camplodactyly.
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dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a
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Blau syndrome classically presents in early childhood as a triad of granulomatous dermatitis,
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Blau EB : Autosomal dominant granulomatous disease of childhood: The naming of things.
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Multiple, reddish-brown papules coalescing over the right arm in a boy with Blau syndrome
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402: This article incorporates text from this source, which is available under the
275:"Blau syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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Wouters, Carine; Maes, Anne; Foley, Kevin; Bertin, John; Rose, Carlos (6 August 2014).
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159:. Laboratory and imaging studies can be supportive but are usually not diagnostic.
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gene was made by Wang et al. in 2002 using the Blau syndrome family and others.
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genetic defect in Blau syndrome and Crohn
Disease might be the same or similar.
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356:"Blau Syndrome, the prototypic auto-inflammatory granulomatous disease"
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Blau EB : Familial Granulomatous Arthritis, Iritis, and Rash.
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The discovery that the gene defect in Blau syndrome involves the
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241:. Confirmation of the defect in Blau syndrome being in the
455:"Distinguishing Blau Syndrome from Systemic Sarcoidosis"
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Kaufman, Katherine; Becker, Mara (9 February 2021).
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26:
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44:Coarse facial features in a boy with Blau syndrome
139:, including bacterial polysaccharides such as
614:Cimaz, Rolando; Lehman, Thomas J. A. (2007).
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616:Pediatrics in Systemic Autoimmune Diseases
35:
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436:"Blau's Disease / Juvenile Sarcoidosis"
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791:The American Journal of Human Genetics
137:pathogen-associated molecular patterns
305:"Blau syndrome: MedlinePlus Genetics"
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745:The New England Journal of Medicine
539:The New England Journal of Medicine
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224:In 1996 Tromp et al. conducted a
30:Arthrocutaneouveal granulomatosis
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94:, granulomatous arthritis, and
1042:Blau Syndrome in Orpha website
321:Journal of Clinical Immunology
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853:10.1016/s0022-3476(98)70263-x
784:10.1016/s0022-3476(05)81080-7
685:10.1016/s0022-3476(85)80394-2
145:pattern recognition receptors
869:mutations in Blau syndrome.
708:10.1016/0002-9343(85)90286-4
255:List of cutaneous conditions
952:10.1136/rmdopen-2015-000097
761:10.1056/NEJM198201143060208
551:10.1056/NEJM198201143060208
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1057:Autoinflammatory syndromes
471:10.1007/s11882-021-00991-3
360:Pediatr Rheumatol Online J
333:10.1007/s10875-022-01352-z
837:The Journal of Pediatrics
768:The Journal of Pediatrics
669:The Journal of Pediatrics
618:. Elsevier. p. 190.
279:rarediseases.info.nih.gov
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654:10.1186/1546-0096-12-33
459:Curr Allergy Asthma Rep
373:10.1186/1546-0096-12-33
230:logarithm of odds score
900:2002; 46: 3041-3045.
793:1996; 59: 1097-1107.
731:10.1002/art.1780240915
717:1981; 24: 1199–1204.
516:10.1002/art.1780240915
179:This section is empty.
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671:1985; 107: 689-693.
319:Errors of Immunity".
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54:Dermatology
27:Other names
1051:Categories
999:DiseasesDB
366:(33): 33.
261:References
143:, via its
465:(2): 10.
404:CC BY 4.0
190:July 2024
163:Treatment
151:Diagnosis
108:arthritis
73:autosomal
50:Specialty
1023:Orphanet
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928:RMD Open
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489:33560445
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341:36198931
289:23 April
249:See also
77:mutation
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807:1914842
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202:History
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