The Experts below are selected from a list of 246 Experts worldwide ranked by ideXlab platform
Yoichi Kohno - One of the best experts on this subject based on the ideXlab platform.
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a case of infantile takayasu Arteritis with a p d382e nod2 mutation an unusual phenotype of blau syndrome early onset sarcoidosis
Modern Rheumatology, 2013Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
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A case of infantile Takayasu Arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
Modern Rheumatology, 2012Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
Yuzaburo Inoue - One of the best experts on this subject based on the ideXlab platform.
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a case of infantile takayasu Arteritis with a p d382e nod2 mutation an unusual phenotype of blau syndrome early onset sarcoidosis
Modern Rheumatology, 2013Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
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A case of infantile Takayasu Arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
Modern Rheumatology, 2012Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
Takayasu Arima - One of the best experts on this subject based on the ideXlab platform.
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a case of infantile takayasu Arteritis with a p d382e nod2 mutation an unusual phenotype of blau syndrome early onset sarcoidosis
Modern Rheumatology, 2013Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
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A case of infantile Takayasu Arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
Modern Rheumatology, 2012Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
Yoshinori Morita - One of the best experts on this subject based on the ideXlab platform.
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a case of infantile takayasu Arteritis with a p d382e nod2 mutation an unusual phenotype of blau syndrome early onset sarcoidosis
Modern Rheumatology, 2013Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
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A case of infantile Takayasu Arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
Modern Rheumatology, 2012Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
Ken-ichi Yamaguchi - One of the best experts on this subject based on the ideXlab platform.
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a case of infantile takayasu Arteritis with a p d382e nod2 mutation an unusual phenotype of blau syndrome early onset sarcoidosis
Modern Rheumatology, 2013Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
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A case of infantile Takayasu Arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
Modern Rheumatology, 2012Co-Authors: Yuzaburo Inoue, Taiji Nakano, Minako Tomiita, Yasushi Kawaguchi, Naoki Shimojo, Ken-ichi Yamaguchi, Yoshinori Morita, Takayasu Arima, Yoichi KohnoAbstract:Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu Arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.