相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。First case of pyrin-associated autoinflammation with neutrophilic dermatosis complicated by amyloidosis
Masatomo Kiyota et al.
RHEUMATOLOGY (2020)
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases
Nienke M. Ter Haar et al.
ANNALS OF THE RHEUMATIC DISEASES (2019)
Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing
Ryoji Fujiki et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2018)
Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders
Mikhail M. Kostik et al.
RHEUMATOLOGY INTERNATIONAL (2018)
Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study
Eldad Ben-Chetrit et al.
ANNALS OF THE RHEUMATIC DISEASES (2018)
Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review
Yvan Jamilloux et al.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2018)
Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype
C. M. L. Volker-Touw et al.
BRITISH JOURNAL OF DERMATOLOGY (2017)
The burgeoning field of innate immune-mediated disease and autoinflammation
Daniel Peckham et al.
JOURNAL OF PATHOLOGY (2017)
Autoinflammatory Diseases with Periodic Fevers
Erdal Sag et al.
CURRENT RHEUMATOLOGY REPORTS (2017)
Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges
J. B. Kuemmerle-Deschner et al.
ARTHRITIS & RHEUMATOLOGY (2017)
A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease
Qingping Yao et al.
AMERICAN JOURNAL OF MEDICINE (2017)
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
Marta Rusmini et al.
ANNALS OF THE RHEUMATIC DISEASES (2016)
Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed
Monique Stoffels et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 17 (2016)
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
Seth L. Masters et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey
Naoyasu Ueda et al.
ARTHRITIS & RHEUMATOLOGY (2016)
Familial Mediterranean fever is no longer a rare disease in Japan
Kiyoshi Migita et al.
ARTHRITIS RESEARCH & THERAPY (2016)
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers
Silvia Federici et al.
ANNALS OF THE RHEUMATIC DISEASES (2015)
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
Neil Romberg et al.
NATURE GENETICS (2014)
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Scott W. Canna et al.
NATURE GENETICS (2014)
Familial Mediterranean Fever Genotype-Phenotype Correlations in Japanese Patients
Kiyoshi Migita et al.
MEDICINE (2014)
Next-generation sequencing in the clinic: Promises and challenges
Jiekun Xuan et al.
CANCER LETTERS (2013)
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature
Dorota M. Rowczenio et al.
ARTHRITIS RESEARCH & THERAPY (2013)
A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency
Qing Zhou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions
Michael J. Ombrello et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Identification and Functional Consequences of a Recurrent NLRP12 Missense Mutation in Periodic Fever Syndromes
Isabelle Jeru et al.
ARTHRITIS AND RHEUMATISM (2011)
Autoinflammatory Disease Reloaded: A Clinical Perspective
Daniel L. Kastner et al.
CELL (2010)
Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease
Seth L. Masters et al.
ANNUAL REVIEW OF IMMUNOLOGY (2009)
Mutations in NALP12 cause hereditary periodic fever syndromes
I. Jeru et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
R Topaloglu et al.
ANNALS OF THE RHEUMATIC DISEASES (2005)
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
HM Hoffman et al.
NATURE GENETICS (2001)
CARD15 mutations in Blau syndrome
C Miceli-Richard et al.
NATURE GENETICS (2001)
分享论文
