Abstract
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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Adolescent
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Arthritis, Juvenile / drug therapy
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Arthritis, Juvenile / genetics*
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Arthritis, Juvenile / pathology
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Granuloma / genetics
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Granuloma / pathology
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Humans
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Lung Diseases, Interstitial / genetics*
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Lung Diseases, Interstitial / pathology
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Lymph Nodes / pathology
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Lymphadenitis / drug therapy
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Lymphadenitis / genetics
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Male
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Mutation*
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Nod2 Signaling Adaptor Protein / genetics*
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Syndrome
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Synovitis / drug therapy
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Synovitis / genetics*
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Synovitis / pathology
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Treatment Outcome
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Uveitis, Anterior / genetics
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Uveitis, Anterior / pathology
Substances
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NOD2 protein, human
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Nod2 Signaling Adaptor Protein