Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions

Ting, Suk See; Ziegler, John B.; Fischer, Eddy

doi:10.1016/s0022-3476(98)70286-0

Cited by 54 publications

(31 citation statements)

References 6 publications

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“…There have been sporadic reports of visceral involvement in Blau syndrome, including granulomatous liver, kidney, and vascular infiltration (4,5,15). However, the clinical features of granulomatous lymphadenitis and interstitial pneumonitis exhibited by our patient have not, to our knowledge, been previously reported in a familial case with documented mutation.…”

Section: Discussionmentioning

confidence: 47%

Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

Becker¹,

Martin²,

Doyle³

et al. 2007

Arthritis & Rheumatism

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This is the first report of a CARD15 mutation–positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis. This case illustrates the continued evolution of the phenotype of a disease initially conceived as a familial inflammatory granulomatous disease limited to the triad of synovitis, dermatitis, and uveitis.

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Section: Discussionmentioning

confidence: 47%

Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

Becker¹,

Martin²,

Doyle³

et al. 2007

Arthritis & Rheumatism

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“…Affected individuals typically exhibit one or more of the following granulomatous inflammations, which are variable in terms of age at onset: acute anterior uveitis, arthritis (sometimes associated with camptodactyly), and skin rash. Recent studies on families with Blau syndrome have revealed the involvement of other organs in addition to the skin, joint, and eye, as well as other symptoms such as cranial neuropathies (2), fever (3)(4)(5)(6), cerebral infarction (7), sarcoid-like hepatic granulomata (6), arteritis and/or malignant hypertension (3)(4)(5), and renal lesions (8). The Blau syndrome phenotype therefore may be more complex than previously suspected, and we have suggested that Blau syndrome and related disorders are a subset of the familial granulomatosis syndromes (9).…”

mentioning

confidence: 99%

CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large‐vessel arteritis and cranial neuropathy

Wang¹,

Kuivaniemi²,

Bonavita³

et al. 2002

Arthritis & Rheumatism

125

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Objective. To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions.Methods. Linkage mapping was performed in 10 families. Observed recombination events were used to exclude regions centromeric or telomeric to 16q12.1, and the Blau gene critical region was refined to <3 cM, corresponding to a physical distance of 3.5 megabasepairs. Based on its known biochemical function, CARD15 was analyzed as a positional candidate for the Blau syndrome susceptibility gene, by direct DNA sequencing.Results. These studies resulted in the identification, in 5 of the families, of 2 sequence variants at position 334 of the gene product (R334W and R334Q). Affected family members from the original Blau syndrome kindred were heterozygous for the R334W missense mutation; mutations at the same position were also observed in several unrelated Blau syndrome families, some of whose phenotypes included large-vessel arteritis and cranial neuropathy. The missense mutations segregated with the disease phenotype in the families, and were not seen in 208 control alleles.Conclusion. These findings demonstrate that CARD15 is an important susceptibility gene for Blau syndrome and for other familial granulomatoses that display phenotypic traits beyond those of classic Blau syndrome.

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“…There have been two reports of BS in association with hepatic and renal granulomatous involvement [14,15]. Punzi et al [16] recently published an extensive review that includes 154 cases of BS among 41 families.…”

Section: Discussionmentioning

confidence: 99%

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome

et al. 2010

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Blau syndrome is a rare, multisystem, autosomal-dominant, and granulomatous disorder caused by susceptibility variants in the NOD2 gene. We describe here a 14-year-old girl with Blau syndrome with incidentally diagnosed renal carcinoma. The index case presented with growth retardation and recurrent symmetric arthritis. Her clinical symptoms included bilateral cataract due to recurrent uveitis, camptodactyly, and persistent erythematous rash with ichthyosis. Her two sisters and her mother were affected with combinations of these conditions-symmetric polyarthritis, uveitis, and skin involvement-suggesting an autosomal dominant trait. The index case developed a chronic renal insufficiency, and an abdominal computerized tomography scan revealed a 2.5-cm mass in the left kidney. The histopathological examination showed renal clear cell carcinoma, chronic tubulointerstitial nephritis,and giant cell granulomas in both the tumor and nonneoplastic renal tissue. Granulomatous inflammation was observed in the skin biopsy specimen. The patient was diagnosed with Blau syndrome based on her family history, uveitis, granulomatous inflammation proved by skin biopsy, and polyarthritis. Sequencing of the NOD2 gene showed a heterozygous p.R334Q mutation in all affected family members. To the best of our knowledge, this is the first reported case of a patient with Blau syndrome accompanied by chronic renal failure and renal carcinoma.

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Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions

Cited by 54 publications

References 6 publications

Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15

CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large‐vessel arteritis and cranial neuropathy

Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome

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