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290 results on '"Nishikomori R"'

1. Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome

Author

Kawai M, Yoshikawa T, Nishikomori R, Heike T, and Takahashi K

Subjects
Ophthalmology, RE1-994
Abstract

Mariko Kawai,1 Tadanobu Yoshikawa,1 Ryuta Nishikomori,2 Toshio Heike,2 Kanji Takahashi11Department of Ophthalmology, Kansai Medical University, Osaka, 2Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, JapanAbstract: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases caused by mutations of the NLRP3 gene, and leads to excessive production of the proinflammatory cytokine, interleukin-lß. A 35-year-old male presented with recurrent symptoms of urticarial-like rash, periodic fever, arthralgia, headache, and eye redness. His best-corrected visual acuity was 1.0 OD and 0.9 OS. Slit-lamp examination showed conjunctival and episcleral injection in both eyes. Ophthalmoscopy revealed obvious bilateral optic disc swelling and retinal vascular sheathing around the optic discs. Spectral domain optical coherence tomography also showed obvious optic disc swelling. Steroid and nonsteroidal anti-inflammatory drugs did not improve these symptoms. Genetic testing detected a heterozygous mutation of c.907G>A. Thus, the patient was genetically confirmed with CAPS. Visual acuity did not decrease for 3 years, although the optic discs became white in color. CAPS should therefore be distinguished from other disorders when examining optic disc swelling and/or uveitis patients with urticarial-like rash and periodic fever.Keywords: interleukin-lß, chronic infantile cutaneous and articular syndrome, cryopyrin-associated periodic syndrome, leucine-rich repeat-containing protein 3, optic disc swelling

Published
2013

8. Reply

Author

Kusunoki, T., Mukaida, K., Morimoto, T., Sakuma, M., Yasumi, T., Nishikomori, R., and Heike, T.

Published
2012
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9. Guidelines for the genetic diagnosis of hereditary recurrent fevers

Author

Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, and Touitou, I

Published
2012
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14. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Author

Federici S., Sormani M. P., Ozen S., Lachmann H. J., Amaryan G., Woo P., Kone-Paut I., Dewarrat N., Cantarini L., Insalaco A., Uziel Y., Rigante D., Quartier P., Demirkaya E., Herlin T., Meini A., Fabio G., Kallinich T., Martino S., Butbul A. Y., Olivieri A., Kuemmerle-Deschner J., Neven B., Simon A., Ozdogan H., Touitou I., Frenkel J., Hofer M., Martini A., Ruperto N., Gattorno M., Espada G., Russo R., De Cunto C., Boros C., Borzutzky A., Jelusic-Drazic M., Dolezalova P., Nielsen S., Hentgen V., Schwarz T., Berendes R., Jansson A., Horneff G., Papadopoulou-Alataki E., Tsitsami E., Tsakalidou F. K., Gallizzi R., Obici L., Barone P., Cimaz R., Alessio M., Nishikomori R., Stanevicha V., Hoppenreijs E., Wolska-Kusnierz B., Iagaru N., Nikishina I., Al-Mayouf S. M., Sewairi, Susic G., Toplak N., Modesto C., Elorduy M. J. R., Anton J., Bou R., Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Kone-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S., Butbul, A. Y., Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., Espada, G., Russo, R., De Cunto, C., Boros, C., Borzutzky, A., Jelusic-Drazic, M., Dolezalova, P., Nielsen, S., Hentgen, V., Schwarz, T., Berendes, R., Jansson, A., Horneff, G., Papadopoulou-Alataki, E., Tsitsami, E., Tsakalidou, F. K., Gallizzi, R., Obici, L., Barone, P., Cimaz, R., Alessio, M., Nishikomori, R., Stanevicha, V., Hoppenreijs, E., Wolska-Kusnierz, B., Iagaru, N., Nikishina, I., Al-Mayouf, S. M., Sewairi, Susic, G., Toplak, N., Modesto, C., Elorduy, M. J. R., Anton, J., Bou, R., Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University of Genoa (UNIGE), Hacettepe University = Hacettepe Üniversitesi, National Amyloidosis Centre, University College London Medical School, University College of London [London] (UCL), 'ARABKIR' JOINT MEDICAL CENTER & INSTITUTE OF CHILD AND ADOLESCENT HEALTH, Cardiac Unit, Institute of Child Health (UCL), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), University Hospital Center (CHUV) and University of Lausanne (UNIL), Lausanne, Università degli Studi di Siena = University of Siena (UNISI), Children's Hospital Bambino Gesù IRCCS [Rome], Meir Medical Centre, Università cattolica del Sacro Cuore [Roma] (Unicatt), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Ankara University School of Medicine [Turkey], Aarhus University Hospital, Università degli Studi di Brescia [Brescia], IRCCS Istituto Nazionale dei Tumori [Milano], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Università degli studi di Torino (UNITO), Rambam Medical Health Center, Israel., Universita degli studi di Napoli 'Parthenope' [Napoli], Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Radboud University Medical Centre [Nijmegen, The Netherlands], Cerrahpasa Faculty of Medicine, Istanbul University, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Geneva University Hospital (HUG), Universita degli studi di Genova, and Olivieri, Alma Nunzia

Subjects
Male, Pediatrics, Multivariate analysis, [SDV]Life Sciences [q-bio], Fever Syndromes, Familial Mediterranean fever, Immunology and Allergy, Mevalonate Kinase Deficiency/classification/diagnosis, Registries, Child, ddc:618, Evidence-Based Medicine, Middle Aged, Pharyngitis, 3. Good health, Familial Mediterranean Fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Autoinflammation, Familial Mediterranean Fever/classification/diagnosis, Female, medicine.symptom, Periodic fever syndrome, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, medicine.medical_specialty, Fever, Adolescent, Immunology, Cryopyrin-Associated Periodic Syndromes/classification/diagnosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, Young Adult, Inflammation, Rheumatology, medicine, Humans, Preschool, Hereditary Autoinflammatory Diseases/classification/diagnosis, Receiver operating characteristic, business.industry, Hereditary Autoinflammatory Diseases, Case-control study, Cryopyrin-associated periodic syndrome, Infant, Gold standard (test), medicine.disease, Case-Control Studies, Cryopyrin-Associated Periodic Syndromes, Mevalonate Kinase Deficiency, ROC Curve, business
Abstract

Item does not contain fulltext The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.

Published
2015

17. Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency

Author

Nihira, H, primary, Nakagawa, K, additional, Izawa, K, additional, Kawai, T, additional, Yasumi, T, additional, Nishikomori, R, additional, Nambu, M, additional, Miyagawa-Hayashino, A, additional, Nomura, T, additional, Kabashima, K, additional, Ito, M, additional, Iwaki-Egawa, S, additional, Sasahara, Y, additional, Nakayama, M, additional, and Heike, T, additional

Published
2017
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26. Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Author

Gonzalez-Roca, E, primary, Mensa-Vilaro, A, additional, Plaza, S, additional, Anton, MC, additional, Rius, J, additional, Ruiz-Ortiz, E, additional, Campistol, JM, additional, Souto, A, additional, Cañellas, J, additional, Nakagawa, K, additional, Nishikomori, R, additional, Yagüe, J, additional, and Arostegui, JI, additional

Published
2015
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27. A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

Author

Abe, J., primary, Nakamura, K., additional, Nishikomori, R., additional, Kato, M., additional, Mitsuiki, N., additional, Izawa, K., additional, Awaya, T., additional, Kawai, T., additional, Yasumi, T., additional, Toyoshima, I., additional, Hasegawa, K., additional, Ohshima, Y., additional, Hiragi, T., additional, Sasahara, Y., additional, Suzuki, Y., additional, Kikuchi, M., additional, Osaka, H., additional, Ohya, T., additional, Ninomiya, S., additional, Fujikawa, S., additional, Akasaka, M., additional, Iwata, N., additional, Kawakita, A., additional, Funatsuka, M., additional, Shintaku, H., additional, Ohara, O., additional, Ichinose, H., additional, and Heike, T., additional

Published
2013
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29. STAT4 serine phosphorylation is critical for IL-12-induced IFN-? production but not for cell proliferation

Author

Morinobu A, Gadina M, Strober W, Visconti R, Fornace A, Montagna C, Feldman GM, Nishikomori R, and O'Shea JJ

Subjects
musculoskeletal diseases, immune system diseases, hemic and immune systems, skin and connective tissue diseases
Abstract

T helper 1 (T(H)1) differentiation and IFN-gamma production are crucial in cell-mediated immune responses. IL-12 is an important regulator of this process and mediates its effects through signal transducer and activator of transcription 4 (STAT4). IFN-gamma production is also regulated by the p38 mitogen-activated kinase pathway, although the mechanisms are ill-defined. We show here that GADD45-beta and GADD45-gamma can induce STAT4 S721 phosphorylation via the MKK6/p38 pathway. Thus, STAT4 could be a target that accounts for the defects in cell-mediated immunity associated with perturbations in the p38 pathway. To investigate the biological significance of STAT4 S721 phosphorylation, we reconstituted primary spleen cells from STAT4-deficient mice with wild-type and mutated STAT4, by using a retroviral gene transduction. We demonstrated that expression of wild-type STAT4, but not the S721A mutant, restored normal T(H)1 differentiation and IFN-gamma synthesis. The inability of STAT4 S721 to restore IFN-gamma production was not caused by decreased IL-12R expression because the STAT4 S721 mutant also failed to restore IFN-gamma production in STAT4-deficient IL-12Rbeta2 transgenic cells. Importantly, STAT4 S721A-transduced cells showed normal proliferative response to IL-12, illustrating that serine phosphorylation is not required for IL-12-induced proliferation. Additionally, the results imply the existence of STAT4 serine phosphorylation-dependent and -independent target genes. We conclude that phosphorylation of STAT4 on both tyrosine and serine residues is important in promoting normal T(H)1 differentiation and IFN-gamma secretion.

Published
2002

36. Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

Author

Izawa, K., primary, Hijikata, A., additional, Tanaka, N., additional, Kawai, T., additional, Saito, M. K., additional, Goldbach-Mansky, R., additional, Aksentijevich, I., additional, Yasumi, T., additional, Nakahata, T., additional, Heike, T., additional, Nishikomori, R., additional, and Ohara, O., additional

Published
2012
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38. Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency.

Author

Nihira, H, Nakagawa, K, Izawa, K, Kawai, T, Yasumi, T, Nishikomori, R, Nambu, M, Miyagawa-Hayashino, A, Nomura, T, Kabashima, K, Ito, M, Iwaki-Egawa, S, Sasahara, Y, Nakayama, M, and Heike, T

Subjects
CASE studies, ADENOSINE deaminase, FEVER, ERYTHEMA, PEDIATRICS, PATIENTS
Abstract

The article presents a case study of a three-month-old girl patient who started to suffer target-like erythematous lesions and diagnosed with deficiency of adenosine deaminase type 2 (DADA2). The paedritic patient was presented with as recurrent fever and erythema with no evidence of systemic vasculopathy.

Published
2018
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41. Dosing patterns of canakinumab in patients with Cryopyrin-Associated Periodic Syndromes (CAPS): A comparative analysis of a study in Western versus Japanese patients

Author

Bader-Meunier, B, primary, Hachulla, P, additional, Kuemmerle-Deschner, J, additional, Gattorno, M, additional, Patel, N, additional, Preiss, R, additional, Lheritier, K, additional, Imagawa, T, additional, Nishikomori, R, additional, Takada, H, additional, Heike, T, additional, Hara, T, additional, and Yokota, S, additional

Published
2011
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