标题
Autoinflammatory diseases: update on classification diagnosis and management
作者
关键词
-
出版物
JOURNAL OF CLINICAL PATHOLOGY
Volume 70, Issue 1, Pages 1-8
出版商
BMJ
发表日期
2016-09-20
DOI
10.1136/jclinpath-2016-203810
参考文献
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- (2016) Yong Hwan Park et al. NATURE IMMUNOLOGY
- Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
- (2016) Joris M. Van Montfrans et al. RHEUMATOLOGY
- T helper 1 immunity requires complement-driven NLRP3 inflammasome activity in CD4+ T cells
- (2016) G. Arbore et al. SCIENCE
- Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation
- (2016) Seth L. Masters et al. Science Translational Medicine
- Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-NucleotideTNFRSF1ADeletion
- (2016) Dorota M. Rowczenio et al. Arthritis & Rheumatology
- Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to GonosomalNOD2Mosaicism
- (2016) Anna Mensa-Vilaro et al. Arthritis & Rheumatology
- Taponamiento cardiaco como forma de inicio de fiebre mediterránea familiar con herencia autosómica dominante
- (2015) F. Sánchez Ferrer et al. ANALES DE PEDIATRIA
- A20 Restricts Ubiquitination of Pro-Interleukin-1β Protein Complexes and Suppresses NLRP3 Inflammasome Activity
- (2015) Bao H. Duong et al. IMMUNITY
- Somatic NOD2 mosaicism in Blau syndrome
- (2015) Jaime de Inocencio et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency
- (2015) Lien Van Eyck et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
- (2015) Anja Brehm et al. JOURNAL OF CLINICAL INVESTIGATION
- Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
- (2015) Jolan E. Walter et al. JOURNAL OF CLINICAL INVESTIGATION
- Interleukin-1 as a Common Denominator from Autoinflammatory to Autoimmune Disorders: Premises, Perils, and Perspectives
- (2015) Giuseppe Lopalco et al. MEDIATORS OF INFLAMMATION
- Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
- (2015) Qing Zhou et al. NATURE GENETICS
- Familial Mediterranean fever without MEFV mutations: a case–control study
- (2015) Ilan Ben-Zvi et al. Orphanet Journal of Rare Diseases
- Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis
- (2015) Yael Shinar et al. Orphanet Journal of Rare Diseases
- Type I interferonopathies—an expanding disease spectrum of immunodysregulation
- (2015) Min Ae Lee-Kirsch et al. Seminars in Immunopathology
- Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted SomaticNLRP3Mutation
- (2015) Qing Zhou et al. Arthritis & Rheumatology
- IL-1 Blockade in Autoinflammatory Syndromes
- (2014) Adriana A. Jesus et al. Annual Review of Medicine
- Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders
- (2014) David Buchbinder et al. JOURNAL OF CLINICAL IMMUNOLOGY
- An inherited mutation inNLRC4causes autoinflammation in human and mice
- (2014) Akiko Kitamura et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Inflammasome Priming by Lipopolysaccharide Is Dependent upon ERK Signaling and Proteasome Function
- (2014) M. G. Ghonime et al. JOURNAL OF IMMUNOLOGY
- Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome
- (2014) Hao Xu et al. NATURE
- Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
- (2014) Neil Romberg et al. NATURE GENETICS
- An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
- (2014) Scott W Canna et al. NATURE GENETICS
- Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
- (2014) Qing Zhou et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
- (2014) Paulina Navon Elkan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutations in CECR1 associated with a neutrophil signature in peripheral blood
- (2014) Alexandre Belot et al. Pediatric Rheumatology
- IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans
- (2014) Antonella de Luca et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
- (2014) H. S. Kuehn et al. SCIENCE
- SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
- (2013) Kenji Nakagawa et al. ANNALS OF THE RHEUMATIC DISEASES
- Three Japanese patients (Mother and Two Children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern
- (2013) Yasutsugu Fukushima ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions
- (2012) Michael J. Ombrello et al. NEW ENGLAND JOURNAL OF MEDICINE
- The Q705K Polymorphism in NLRP3 Is a Gain-of-Function Alteration Leading to Excessive Interleukin-1β and IL-18 Production
- (2012) Deepti Verma et al. PLoS One
- Type I interferonopathies: a novel set of inborn errors of immunity
- (2011) Yanick J. Crow Annals of the New York Academy of Sciences
- High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study
- (2011) Naoko Tanaka et al. ARTHRITIS AND RHEUMATISM
- Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
- (2011) Yin Liu et al. ARTHRITIS AND RHEUMATISM
- Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases
- (2011) Sinisa Savic et al. CURRENT OPINION IN RHEUMATOLOGY
- Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1β Activation and Severe Autoinflammation in Mice
- (2011) Jae Jin Chae et al. IMMUNITY
- A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans
- (2011) Akiko Kitamura et al. JOURNAL OF CLINICAL INVESTIGATION
- Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
- (2011) Slaheddine Marrakchi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Role of IL-1 Beta in the Development of Human TH17 Cells: Lesson from NLPR3 Mutated Patients
- (2011) Denise Lasigliè et al. PLoS One
- PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
- (2010) Anil K. Agarwal et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages
- (2010) A. V. Zavialov et al. JOURNAL OF LEUKOCYTE BIOLOGY
- An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist
- (2009) Ivona Aksentijevich et al. NEW ENGLAND JOURNAL OF MEDICINE
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