久留米大学研究者紹介
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  • 　種類　／　単著・共著等　／　発行・発表年
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    西小森　隆太の著書・論文・学会発表等
    No. 詳細
    1

  • Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs

  • 雑誌　／　共著　／　2023年 8月
    Rheumatol Int

  • 2

  • Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases

  • 雑誌　／　共著　／　2023年 2月
    J Clin Immunol
  • ／　Vol.43 No.2 466-478

    		•
    3

  • Immunoglobulin G deposition on proximal tubules and the tubular basement membrane in acute tubular injury complicated with focal segmental glomerulosclerosis (FSGS): A possible prediction tool for subclinical FSGS.

  • 雑誌　／　共著　／　2023年
    Ann Diagn Pathol.
  • ／　Vol.66 152154

    		•
    4

  • Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease

  • 雑誌　／　共著　／　2023年
    Kidney Int Rep
  • ／　Vol.8 No.5 1127-1129

    		•
    5

  • STING signalling is terminated through ESCRT-dependent microautophagy of vesicles originating from recycling endosomes.

  • 雑誌　／　共著　／　2023年
    Nat Cell Biol.
  • ／　Vol.25 No.3 453-466

    		•
    6

  • Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity.

  • 雑誌　／　共著　／　2023年
    J Exp Med.
  • ／　Vol.220 No.9

    • 7

  • Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).

  • 雑誌　／　共著　／　2023年
    Pediatr Rheumatol Online J.
  • ／　Vol.21 No.1 38

    		•
    8

  • Editorial: A new frontier in translational research on autoinflammatory diseases - various aspects of innate immunity on human diseases.

  • 雑誌　／　共著　／　2023年
    Front Immunol.
  • ／　Vol.14 1147202

    		•
    9

  • Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.

  • 雑誌　／　共著　／　2023年
    Rheumatology (Oxford).

  • 10

  • A case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis.

  • 雑誌　／　共著　／　2023年
    Mod Rheumatol Case Rep.

  • 11

  • Systemic inflammation caused by an intracranial mesenchymal tumor with a EWSR1::CREM fusion presenting associated with IL-6/STAT3 signaling.

  • 雑誌　／　共著　／　2023年
    Neuropathology.
  • ／　Vol.43 No.3 244-251

    		•
    12

  • A Case of STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.

  • 雑誌　／　共著　／　2023年
    Intern Med.

  • 13

  • Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease.

  • 雑誌　／　共著　／　2022年
    Pediatr Allergy Immunol.
  • ／　Vol.33 No.2 e13748

    		•
    14

  • Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.

  • 雑誌　／　共著　／　2022年
    Front Immunol.
  • ／　Vol.13 905960

    		•
    15

  • Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.

  • 雑誌　／　共著　／　2022年
    J Exp Med
  • ／　Vol.219 No.6

    • 16

  • Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis.

  • 雑誌　／　共著　／　2022年
    J Autoimmun
  • ／　Vol.127 102794

    		•
    17

  • Allograft dysfunction after lung transplantation for COPA syndrome: A case report and literature review.

  • 雑誌　／　共著　／　2022年
    Mod Rheumatol Case Rep.
  • ／　Vol.6 No.2 314-318

    		•
    18

  • Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.

  • 雑誌　／　共著　／　2022年
    Ann Rheum Dis.
  • ／　Vol.81 No.10 1453-1464

    		•
    19

  • Systemic inflammation caused by an intracranial mesenchymal tumor with a EWSR1::CREM fusion presenting associated with IL-6/STAT3 signaling.

  • 雑誌　／　共著　／　2022年
    Neuropathology

  • 20

  • Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.

  • 雑誌　／　共著　／　2022年
    Front Immunol.
  • ／　Vol.13 917398

    		•
    21

  • Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease.

  • 雑誌　／　共著　／　2022年
    Kidney Int Rep.
  • ／　Vol.7 No.4 857-866

    		•
    22

  • Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.

  • 雑誌　／　共著　／　2022年
    J Clin Immunol
  • ／　Vol.43 No.2 466-478

    		•
    23

  • Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases.

  • 雑誌　／　共著　／　2022年
    Front Immunol.
  • ／　Vol.13 870535

    		•
    24

  • Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.

  • 雑誌　／　共著　／　2022年
    Front Cell Infect Microbiol.
  • ／　Vol.11 787667

    		•
    25

  • Ultrasound and biopsy findings in arthritis with familial Mediterranean fever.

  • 雑誌　／　共著　／　2022年
    J Med Ultrason (2001)
  • ／　Vol.49 No.1 115-116

    		•
    26

  • NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination.

  • 雑誌　／　共著　／　2021年
    Children (Basel).
  • ／　Vol.8 No.2

    • 27

  • Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.

  • 雑誌　／　共著　／　2021年
    Front Cell Infect Microbiol.
  • ／　Vol.11 787667

    		•
    28

  • Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED.

  • 雑誌　／　共著　／　2021年
    Front Neurol
  • ／　Vol.12 679164

    		•
    29

  • Aicardi-Goutières syndrome-like encephalitis in mutant mice with constitutively active MDA5.

  • 雑誌　／　共著　／　2021年
    Int Immunol
  • ／　Vol.33 No.4 225-240

    		•
    30

  • Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature.

  • 雑誌　／　共著　／　2021年
    Pediatr Rheumatol Online J
  • ／　Vol.19 No.1 77

    		•
    31

  • A novel mutation in early-onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes.

  • 雑誌　／　共著　／　2021年
    Pediatr Rheumatol Online J
  • ／　Vol.19 No.1 18

    		•
    32

  • Augmentation of Stimulator of Interferon Genes-Induced Type I Interferon Production in COPA Syndrome.

  • 雑誌　／　共著　／　2021年
    Arthritis Rheumatol
  • ／　Vol.73 No.11 2105-2015

    		•
    33

  • Multiomic technologies for analyses of inborn errors of immunity: from snapshot of the average cell to dynamic temporal picture at single-cell resolution.

  • 雑誌　／　共著　／　2021年
    Inflamm Regen.
  • ／　Vol.41 No.1 19

    		•
    34

  • 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.

  • 雑誌　／　共著　／　2021年
    Mod Rheumatol.
  • ／　Vol.31 No.6 1208-1214

    		•
    35

  • Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.

  • 雑誌　／　共著　／　2021年
    J Allergy Clin Immunol.
  • ／　Vol.148 No.2 550-562

    		•
    36

  • Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency.

  • 雑誌　／　共著　／　2021年
    J Clin Immunol.
  • ／　Vol.41 No.8 1954-1956

    		•
    37

  • Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.

  • 雑誌　／　共著　／　2021年
    Mod Rheumatol.
  • ／　Vol.31 No.2 493-497

    		•
    38

  • Clinical phenotypes and genetic analyses for diagnosis of systemic autoinflammatory diseases in adult patients with unexplained fever.

  • 雑誌　／　共著　／　2021年
    Mod Rheumatol.
  • ／　Vol.31 No.3 704-709

    		•
    39

  • Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

  • 雑誌　／　共著　／　2021年
    Nat Commun.
  • ／　Vol.12 No.1 6819

    		•
    40

  • Enzyme activity in dried blood spot as a diagnostic tool for adenosine deaminase 2 deficiency.

  • 雑誌　／　共著　／　2021年
    Anal Biochem
  • ／　Vol.628 114292

    		•
    41

  • Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

  • 雑誌　／　共著　／　2021年
    J Clin Immunol
  • ／　Vol.41 No.6 1187-1197

    		•
    42

  • Case of cryopyrin-associated periodic syndrome who recovered from growth delay by treatment with canakinumab.

  • 雑誌　／　共著　／　2021年
    J Dermatol
  • ／　Vol.48 No.2 e98-e99

    		•
    43

  • Simple and Sensitive Analysis for Dried Blood Spot Proteins by Sodium Carbonate Precipitation for Clinical Proteomics.

  • 雑誌　／　共著　／　2020年
    J Proteome Res.
  • ／　Vol.19 No.7 2821-2827

    		•
    44

  • ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

  • 雑誌　／　共著　／　2020年
    Clin Chem.
  • ／　Vol.66 No.4 525-536

    		•
    45

  • Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.

  • 雑誌　／　共著　／　2020年
    Ann Rheum Dis.
  • ／　Vol.79 No.11 1492-1499

    		•
    46

  • Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry.

  • 雑誌　／　共著　／　2020年
    Clin Immunol
  • ／　Vol.216 108441

    		•
    47

  • 別冊医学のあゆみ 自己炎症性疾患ー病態解明から診療体制の確立まで

  • 単行本　／　編集　／　2019年11月
    医歯薬出版社

  • 48

  • Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.

  • 雑誌　／　共著　／　2019年
    Rheumatology (Oxford).
  • ／　Vol.58 No.1 182-184

    		•
    49

  • Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

  • 雑誌　／　共著　／　2019年
    J Clin Invest
  • ／　Vol.129 No.2 583-597

    		•
    50

  • National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics

  • 雑誌　／　共著　／　2019年
    Mod Rheumatol
  • ／　Vol.29 No.1 181-187

    		•
    51

  • Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.

  • その他　／　共著　／　2019年
    Int Immunol
  • ／　Vol.31 No.10 649-655

    		•
    52

  • Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

  • 雑誌　／　共著　／　2019年
    Clin Exp Immunol.
  • ／　Vol.198 No.3 416-429

    		•
    53

  • Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages.

  • 雑誌　／　共著　／　2019年
    J Allergy Clin Immunol.
  • ／　Vol.144 No.5 1438-1441. e12.

    		•
    54

  • A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations.

  • 雑誌　／　共著　／　2019年
    Intern Med.
  • ／　Vol.58 No.7 1017-1022

    		•
    55

  • Plasma infliximab monitoring contributes to optimize Takayasu arteritis treatment: a case report.

  • 雑誌　／　共著　／　2019年
    J Pharm Health Care Sci.
  • ／　Vol.5 9

    		•
    56

  • Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.

  • 雑誌　／　共著　／　2018年
    J Allergy Clin Immunol.
  • ／　Vol.141 No.4 1485-1488.e11

    		•
    57

  • Influence of post-transplant mucosal-associated invariant T cell recovery on the development of acute graft-versus-host disease in allogeneic bone marrow transplantation.

  • 雑誌　／　共著　／　2018年
    Int J Hematol
  • ／　Vol.108 No.1 66-75

    		•
    58

  • A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome.

  • 雑誌　／　共著　／　2018年
    Clin Exp Dermatol.
  • ／　Vol.43 No.1 57-58

    		•
    59

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

  • 雑誌　／　共著　／　2018年
    Scand J Rheumatol.
  • ／　Vol.47 No.2 170-172

    		•
    60

  • Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.

  • 雑誌　／　共著　／　2018年
    J Allergy Clin Immunol.
  • ／　Vol.141 No.3 1060-1073. e3

    		•
    61

  • Flow cytometry-based diagnosis of primary immunodeficiency diseases.

  • 雑誌　／　共著　／　2018年
    Allergol Int.
  • ／　Vol.67 No.1 43-54

    		•
    62

  • Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.

  • 雑誌　／　共著　／　2018年
    Clin Immunol.
  • ／　Vol.191 63-66

    		•
    63

  • Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.

  • 雑誌　／　共著　／　2018年
    Blood.
  • ／　Vol.131 No.18 2016-2025

    		•
    64

  • Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features.

  • 雑誌　／　共著　／　2018年
    J Allergy Clin Immunol.
  • ／　Vol.141 No.3 1135-1138

    		•
    65

  • Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages.

  • 雑誌　／　共著　／　2018年
    J Allergy Clin Immunol.
  • ／　Vol.141 No.1 339-349. e11.

    		•
    66

  • Long-term safety and efficacy of canakinumab in cryopyrin-associated periodic syndrome: results from an open-label, phase III pivotal study in Japanese patients.

  • 雑誌　／　共著　／　2017年
    Clin Exp Rheumatol.
  • ／　Vol.108 No.6 19-26

    		•
    67

  • Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

  • 雑誌　／　共著　／　2017年
    Blood.
  • ／　Vol.130 No.12 1456-1467

    		•
    68

  • Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy.

  • 雑誌　／　共著　／　2017年
    Clin Case Rep.
  • ／　Vol.5 No.11 1750-1755

    		•
    69

  • A CD57(+) CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.

  • 雑誌　／　共著　／　2017年
    J Clin Immunol
  • ／　Vol.37 No.1 92-99

    		•
    70

  • High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome.

  • 雑誌　／　共著　／　2017年
    J Eur Acad Dermatol Venereol
  • ／　Vol.31 No.2 e115-e116

    		•
    71

  • Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.

  • 雑誌　／　共著　／　2017年
    Medicine (Baltimore)
  • ／　Vol.96 No.46 e8601

    		•
    72

  • Reply to Walsh et al.

  • その他　／　共著　／　2017年
    Eur J Hum Genet
  • ／　Vol.25 No.8 907

    		•
    73

  • Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection

  • 雑誌　／　共著　／　2017年
    Arthritis Rheumatol
  • ／　Vol.69 No.2 447-459

    		•
    74

  • A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.

  • 雑誌　／　共著　／　2017年
    Front Endocrinol (Lausanne).
  • ／　Vol.8 157

    		•
    75

  • Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

  • 雑誌　／　共著　／　2017年
    J Rheumatol
  • ／　Vol.44 No.11 1667-1673

    		•
    76

  • Fruit intake reduces the onset of respiratory allergic symptoms in schoolchildren.

  • 雑誌　／　共著　／　2017年
    Pediatr Allergy Immunol.
  • ／　Vol.28 No.8 793-800

    		•
    77

  • Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

  • 雑誌　／　共著　／　2017年
    Biochem Biophys Rep.
  • ／　Vol.9 146-152

    		•
    78

  • Sports activities enhance the prevalence of rhinitis symptoms in schoolchildren.

  • 雑誌　／　共著　／　2016年
    Pediatr Allergy Immunol.
  • ／　Vol.27 No.2 209-213

    		•
    79

  • Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children.

  • 雑誌　／　共著　／　2016年
    Clin Exp Rheumatol.
  • ／　Vol.34 No.6 Suppl 102 S115-S120

    		•
    80

  • Diagnostic accuracy of endoscopic features of pediatric acute gastrointestinal graft-versus-host disease.

  • 雑誌　／　共著　／　2016年
    Dig Endosc.
  • ／　Vol.28 No.5 548-555

    		•
    81

  • Secondary bladder amyloidosis with familial Mediterranean fever in a living donor kidney transplant recipient: a case report.

  • 雑誌　／　共著　／　2016年
    BMC Res Notes
  • ／　Vol.9 No.1 473

    		•
    82

  • The first case of adult-onset PFAPA syndrome in Japan.

  • 雑誌　／　共著　／　2016年
    Mod Rheumatol
  • ／　Vol.26 No.2 286-287

    		•
    83

  • Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

  • 雑誌　／　共著　／　2016年
    Arthritis Rheumatol.
  • ／　Vol.68 No.12 3035-3041

    		•
    84

  • Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.

  • 雑誌　／　共著　／　2016年
    Rheumatol Int.
  • ／　Vol.36 No.10 1477-1478

    		•
    85

  • Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.

  • 雑誌　／　共著　／　2016年
    Eur J Hum Genet.
  • ／　Vol.24 No.3 408-414

    		•
    86

  • Tumor in chest wall caused by Mycobacterium bovis BCG infection: Identification on polymerase chain reaction of formalin-fixed specimen.

  • 雑誌　／　共著　／　2016年
    Pediatr Int
  • ／　Vol.58 No.4 317-318

    		•
    87

  • Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.

  • 雑誌　／　共著　／　2016年
    Arthritis Rheumatol.
  • ／　Vol.68 No.11 2760-2771

    		•
    88

  • A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.

  • 雑誌　／　共著　／　2016年
    Mod Rheumatol
  • ／　Vol.26 No.5 798-801

    		•
    89

  • 自己炎症症候群の臨床

  • 単行本　／　分担執筆　／　2015年 4月
    新興医学出版社

  • 90

  • 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

  • 雑誌　／　共著　／　2015年
    Arthritis Rheumatol
  • ／　Vol.67 No.1 302-314

    		•
    91

  • Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

  • 雑誌　／　共著　／　2015年
    J Clin Immunol.
  • ／　Vol.35 No.5 454-458

    		•
    92

  • Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis.

  • 雑誌　／　共著　／　2015年
    Br J Haematol
  • ／　Vol.170 No.4 532-538

    		•
    93

  • Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease.

  • 雑誌　／　共著　／　2015年
    Inflamm Bowel Dis.
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