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Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.

Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, Punzi L - RMD Open (2015)

Bottom Line: Clinical onset is typically located in the first years of life and phenotype is characterised by simultaneous or less articular, cutaneous and ocular non-caseating granulomatous inflammation, which can be variably associated with a heterogeneous systemic spectrum.The heightened nuclear factor-κB activity, found in the intestinal tissue of patients affected by CD, has probably a genetic cause related to several CARD15/NOD2 polymorphisms.We described genetic and clinical aspects, mainly focusing on BS and EOS, the most representative diseases of autoinflammatory granulomatous diseases, with the ultimate purpose to expand their knowledge.

View Article: PubMed Central - PubMed

Affiliation: Rheumatology Unit, Department of Medicine DIMED , University of Padova , Padova , Italy ; Rheumatology Unit, Department of Clinical Medicine and Surgery , University Federico II , Naples , Italy.

ABSTRACT
The recent identification of genetic mutations leading to dysfunction of inflammatory and apoptotic pathways, has allowed to characterise a group of diseases, recognised as monogenic autoinflammatory syndromes. Among those, Blau syndrome (BS) and early-onset sarcoidosis (EOS) have been identified as familial and sporadic phenotypes of the same non-caseating granulomatous form. Both the diseases are caused by mutations in the CARD15/NOD2 gene, encoding the cytosolic NOD2 protein, one of the key molecules in the regulation of innate immunity. Clinical onset is typically located in the first years of life and phenotype is characterised by simultaneous or less articular, cutaneous and ocular non-caseating granulomatous inflammation, which can be variably associated with a heterogeneous systemic spectrum. The CARD15/NOD2 gene has also been identified as one of the genes linked to susceptibility to Crohn's disease (CD), a common polygenic inflammatory granulomatous bowel disease. The heightened nuclear factor-κB activity, found in the intestinal tissue of patients affected by CD, has probably a genetic cause related to several CARD15/NOD2 polymorphisms. Other substitutions in the CARD15/NOD2 gene have also been found in a recently described disorder, called NOD2-associated autoinflammatory disease, which shares several clinical characteristics with BS and EOS. This review attempts to describe these diseases on the basis of the most recent evidences. We described genetic and clinical aspects, mainly focusing on BS and EOS, the most representative diseases of autoinflammatory granulomatous diseases, with the ultimate purpose to expand their knowledge.

No MeSH data available.


Related in: MedlinePlus

Camptodactyly in a young patient affected with BS.
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RMDOPEN2015000097F2: Camptodactyly in a young patient affected with BS.

Mentions: Joint involvement can be complicated by deformities; in particular, in acute phases, involvement of the hand small joints is often hypertrophic and associated with tenosynovial cysts (“boggy” synovitis and tenosynovitis) and flexion contractures911 (figure 2). Camptodactyly can also represent a common deformity in the early BS and EOS phases and be linked more to dysplastic processes and flexion contractures than to inflammatory processes.911 In a recent observational study by Rosé et al,11 X-rays of 45 hands have shown non-erosive aspects of arthritis, as well as in advanced diseases phases. In the same study, other significant radiological findings were represented by biconcave radial epiphysis, abnormal plump distal ulna and dysplasia of the scaphoid and lunate bone.11 Moreover, a high percentage of osteopenia and joint space narrowing was found at the level of the interphalangeal, MCP, radiocarpal and distal radioulnar joints.11


Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.

Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, Punzi L - RMD Open (2015)

Camptodactyly in a young patient affected with BS.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4612691&req=5

RMDOPEN2015000097F2: Camptodactyly in a young patient affected with BS.
Mentions: Joint involvement can be complicated by deformities; in particular, in acute phases, involvement of the hand small joints is often hypertrophic and associated with tenosynovial cysts (“boggy” synovitis and tenosynovitis) and flexion contractures911 (figure 2). Camptodactyly can also represent a common deformity in the early BS and EOS phases and be linked more to dysplastic processes and flexion contractures than to inflammatory processes.911 In a recent observational study by Rosé et al,11 X-rays of 45 hands have shown non-erosive aspects of arthritis, as well as in advanced diseases phases. In the same study, other significant radiological findings were represented by biconcave radial epiphysis, abnormal plump distal ulna and dysplasia of the scaphoid and lunate bone.11 Moreover, a high percentage of osteopenia and joint space narrowing was found at the level of the interphalangeal, MCP, radiocarpal and distal radioulnar joints.11

Bottom Line: Clinical onset is typically located in the first years of life and phenotype is characterised by simultaneous or less articular, cutaneous and ocular non-caseating granulomatous inflammation, which can be variably associated with a heterogeneous systemic spectrum.The heightened nuclear factor-κB activity, found in the intestinal tissue of patients affected by CD, has probably a genetic cause related to several CARD15/NOD2 polymorphisms.We described genetic and clinical aspects, mainly focusing on BS and EOS, the most representative diseases of autoinflammatory granulomatous diseases, with the ultimate purpose to expand their knowledge.

View Article: PubMed Central - PubMed

Affiliation: Rheumatology Unit, Department of Medicine DIMED , University of Padova , Padova , Italy ; Rheumatology Unit, Department of Clinical Medicine and Surgery , University Federico II , Naples , Italy.

ABSTRACT
The recent identification of genetic mutations leading to dysfunction of inflammatory and apoptotic pathways, has allowed to characterise a group of diseases, recognised as monogenic autoinflammatory syndromes. Among those, Blau syndrome (BS) and early-onset sarcoidosis (EOS) have been identified as familial and sporadic phenotypes of the same non-caseating granulomatous form. Both the diseases are caused by mutations in the CARD15/NOD2 gene, encoding the cytosolic NOD2 protein, one of the key molecules in the regulation of innate immunity. Clinical onset is typically located in the first years of life and phenotype is characterised by simultaneous or less articular, cutaneous and ocular non-caseating granulomatous inflammation, which can be variably associated with a heterogeneous systemic spectrum. The CARD15/NOD2 gene has also been identified as one of the genes linked to susceptibility to Crohn's disease (CD), a common polygenic inflammatory granulomatous bowel disease. The heightened nuclear factor-κB activity, found in the intestinal tissue of patients affected by CD, has probably a genetic cause related to several CARD15/NOD2 polymorphisms. Other substitutions in the CARD15/NOD2 gene have also been found in a recently described disorder, called NOD2-associated autoinflammatory disease, which shares several clinical characteristics with BS and EOS. This review attempts to describe these diseases on the basis of the most recent evidences. We described genetic and clinical aspects, mainly focusing on BS and EOS, the most representative diseases of autoinflammatory granulomatous diseases, with the ultimate purpose to expand their knowledge.

No MeSH data available.


Related in: MedlinePlus