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A case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis.
- Published in:
- Modern Rheumatology Case Reports, 2024, v. 8, n. 2, p. 368, doi. 10.1093/mrcr/rxad067
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- Publication type:
- Article
Allograft dysfunction after lung transplantation for COPA syndrome: A case report and literature review.
- Published in:
- Modern Rheumatology Case Reports, 2022, v. 6, n. 2, p. 314, doi. 10.1093/mrcr/rxac004
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- Publication type:
- Article
Systemic inflammation caused by an intracranial mesenchymal tumor with a EWSR1::CREM fusion presenting associated with IL‐6/STAT3 signaling.
- Published in:
- Neuropathology, 2023, v. 43, n. 3, p. 244, doi. 10.1111/neup.12877
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- Publication type:
- Article
Real-time single-cell imaging of protein secretion.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep04736
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- Publication type:
- Article
Editorial: A new frontier in translational research on autoinflammatory diseases - various aspects of innate immunity on human diseases.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1147202
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- Publication type:
- Article
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.917398
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- Publication type:
- Article
Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.870535
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- Publication type:
- Article
Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2022, v. 12, p. 1, doi. 10.3389/fcimb.2021.787667
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- Publication type:
- Article
A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
- Published in:
- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
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- Publication type:
- Article
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi–Goutières syndrome/familial chilblain lupus.
- Published in:
- 2013
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- Publication type:
- Journal Article
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi–Goutières syndrome/familial chilblain lupus.
- Published in:
- Rheumatology, 2013, v. 52, n. 2, p. 406, doi. 10.1093/rheumatology/kes181
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- Publication type:
- Article
Gastric ulcer and gastroenteritis caused by Epstein–Barr virus during immunosuppressive therapy for a child with systemic juvenile idiopathic arthritis.
- Published in:
- 2012
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- Publication type:
- Journal Article
Gastric ulcer and gastroenteritis caused by Epstein–Barr virus during immunosuppressive therapy for a child with systemic juvenile idiopathic arthritis.
- Published in:
- 2012
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- Publication type:
- Case Study
A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene.
- Published in:
- 2010
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- Publication type:
- Letter
Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.
- Published in:
- Rheumatology, 2009, v. 48, n. 6, p. 706, doi. 10.1093/rheumatology/kep061
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- Publication type:
- Article
Secondary bladder amyloidosis with familial Mediterranean fever in a living donor kidney transplant recipient: a case report.
- Published in:
- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-2273-2
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- Publication type:
- Article
Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.
- Published in:
- Rheumatology International, 2012, v. 32, n. 12, p. 3761, doi. 10.1007/s00296-011-2225-z
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- Publication type:
- Article
MEFV E148Q variant is more associated with familial Mediterranean fever when combined with other non-exon 10 MEFV variants in Japanese patients with recurrent fever.
- Published in:
- Modern Rheumatology, 2021, v. 31, n. 6, p. 1208, doi. 10.1080/14397595.2021.1880534
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- Publication type:
- Article
Clinical phenotypes and genetic analyses for diagnosis of systemic autoinflammatory diseases in adult patients with unexplained fever.
- Published in:
- Modern Rheumatology, 2021, v. 31, n. 3, p. 704, doi. 10.1080/14397595.2020.1784542
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- Publication type:
- Article
Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.
- Published in:
- Modern Rheumatology, 2021, v. 31, n. 2, p. 473, doi. 10.1080/14397595.2020.1719595
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- Publication type:
- Article
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
- Published in:
- Modern Rheumatology, 2019, v. 29, n. 1, p. 181, doi. 10.1080/14397595.2018.1442639
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- Publication type:
- Article
CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report.
- Published in:
- 2017
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- Publication type:
- Case Study
A 2-year-old Japanese girl with TNF receptor - associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.
- Published in:
- 2016
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- Publication type:
- Case Study
The first case of adult-onset PFAPA syndrome in Japan.
- Published in:
- Modern Rheumatology, 2016, v. 26, n. 2, p. 286, doi. 10.3109/14397595.2013.857801
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- Publication type:
- Article
Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan.
- Published in:
- Modern Rheumatology, 2013, v. 23, n. 3, p. 425, doi. 10.3109/s10165-012-0769-8
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- Publication type:
- Article
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
- Published in:
- Modern Rheumatology, 2011, v. 21, n. 6, p. 641, doi. 10.3109/s10165-011-0442-7
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- Publication type:
- Article
Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.
- Published in:
- Rheumatology, 2019, v. 58, n. 1, p. 182, doi. 10.1093/rheumatology/key283
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- Publication type:
- Article
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.
- Published in:
- 2017
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- Publication type:
- Case Study
STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.
- Published in:
- Internal Medicine, 2024, v. 63, n. 9, p. 1269, doi. 10.2169/internalmedicine.2350-23
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- Publication type:
- Article
A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis.
- Published in:
- Pediatric Pulmonology, 2008, v. 43, n. 8, p. 828, doi. 10.1002/ppul.20856
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- Publication type:
- Article
FR901228 induces tumor regression associated with induction of Fas ligand and activation of Fas signaling in human osteosarcoma cells.
- Published in:
- Oncogene, 2003, v. 22, n. 58, p. 9231, doi. 10.1038/sj.onc.1207184
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- Publication type:
- Article
Augmentation of Stimulator of Interferon Genes–Induced Type I Interferon Production in COPA Syndrome.
- Published in:
- Arthritis & Rheumatology, 2021, v. 73, n. 11, p. 2105, doi. 10.1002/art.41790
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- Publication type:
- Article
Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.
- Published in:
- Arthritis & Rheumatology, 2017, v. 69, n. 2, p. 447, doi. 10.1002/art.39960
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- Publication type:
- Article
Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 12, p. 3035, doi. 10.1002/art.39770
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- Publication type:
- Article
Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 11, p. 2760, doi. 10.1002/art.39793
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- Publication type:
- Article
Enhanced Chondrogenesis of Induced Pluripotent Stem Cells From Patients With Neonatal-Onset Multisystem Inflammatory Disease Occurs via the Caspase 1-Independent cAMP/Protein Kinase A/CREB Pathway.
- Published in:
- Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 302, doi. 10.1002/art.38912
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- Publication type:
- Article
Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature.
- Published in:
- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00578-2
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- Publication type:
- Article
A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes.
- Published in:
- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00505-5
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- Publication type:
- Article
Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing.
- Published in:
- DNA Research, 2012, v. 19, n. 2, p. 143, doi. 10.1093/dnares/dsr047
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- Publication type:
- Article
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 466, doi. 10.1007/s10875-022-01396-1
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- Publication type:
- Article
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency.
- Published in:
- 2021
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- Publication type:
- Letter
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1187, doi. 10.1007/s10875-021-01021-7
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- Publication type:
- Article
A CD57 CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.
- Published in:
- Journal of Clinical Immunology, 2017, v. 37, n. 1, p. 92, doi. 10.1007/s10875-016-0357-3
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- Publication type:
- Article
Somatic Mosaicism for a NRAS Mutation Associates with Disparate Clinical Features in RAS-associated Leukoproliferative Disease: a Report of Two Cases.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 454, doi. 10.1007/s10875-015-0163-3
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- Publication type:
- Article
Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation.
- Published in:
- Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1165, doi. 10.1007/s10875-013-9924-z
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- Publication type:
- Article
Multiple Reversions of an IL2RG Mutation Restore T cell Function in an X-linked Severe Combined Immunodeficiency Patient.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 4, p. 690, doi. 10.1007/s10875-012-9684-1
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- Publication type:
- Article
Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 2, p. 221, doi. 10.1007/s10875-011-9629-0
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- Publication type:
- Article
Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 1, p. 39, doi. 10.1007/s10875-011-9600-0
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- Publication type:
- Article
Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan.
- Published in:
- Journal of Clinical Immunology, 2011, v. 31, n. 6, p. 968, doi. 10.1007/s10875-011-9594-7
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- Publication type:
- Article
Decreased Expression in Nuclear Factor-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes X-linked Ectodermal Dysplasia with Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2011, v. 31, n. 5, p. 762, doi. 10.1007/s10875-011-9560-4
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- Publication type:
- Article