Daniel L. Kastner

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Daniel L. Kastner

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#7085

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#900

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Philosophy

Daniel L. Kastner's Degrees

Bachelors Biology University of Pennsylvania

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According to Wikipedia, Daniel L. Kastner is an American physician and researcher specialising in the genetics of autoinflammatory disorders. He is scientific director of the National Human Genome Research Institute, where he is a National Institutes of Health Distinguished Investigator. He was awarded the 2021 Crafoord Prize for Polyarthritis for his pioneering work on autoinflammatory diseases.

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Daniel L. Kastner's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases (2015) (1657)
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. (2004) (1570)
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci (2010) (1285)
Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes (1999) (1254)
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. (2007) (1041)
Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). (2009) (1025)
Activated STING in a vascular and pulmonary syndrome. (2014) (903)
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. (2006) (774)
Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS) (2011) (753)
The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP (2012) (738)
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. (2007) (711)
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. (2002) (684)
Early-onset stroke and vasculopathy associated with mutations in ADA2. (2014) (618)
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. (2005) (603)
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R/IL12RB2 regions associated with Behçet's disease (2010) (564)
Common variants at CD40 and other loci confer risk of rheumatoid arthritis (2008) (550)
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. (2006) (520)
Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1 (2013) (472)
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway (2003) (451)
Autoinflammatory Disease Reloaded: A Clinical Perspective (2010) (440)
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. (2009) (439)
The TNF Receptor-Associated Periodic Syndrome (TRAPS): Emerging Concepts of an Autoinflammatory Disorder (2002) (431)
Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. (2003) (403)
A guiding map for inflammation (2017) (402)
Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. (2011) (392)
The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. (2000) (388)
A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. (2001) (386)
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. (2007) (378)
CATERPILLERs, pyrin and hereditary immunological disorders (2006) (368)
Pyrin Inflammasome Activation and RhoA Signaling in the Autoinflammatory Diseases FMF and HIDS (2016) (363)
Familial autoinflammatory diseases: genetics, pathogenesis and treatment (2005) (349)
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. (2012) (344)
Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. (1998) (344)
Genetic variants at CD28, PRDM1, and CD2/CD58 are associated with rheumatoid arthritis risk (2009) (343)
Global Analyses of Human Immune Variation Reveal Baseline Predictors of Postvaccination Responses (2014) (337)
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. (2001) (334)
EULAR recommendations for the management of familial Mediterranean fever (2016) (327)
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome (2015) (322)
REL, a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis (2009) (310)
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT (1999) (303)
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. (2020) (303)
Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. (2009) (300)
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. (2012) (299)
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation (2017) (261)
NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cells. (2012) (254)
TNFRSF1A mutations and autoinflammatory syndromes. (2000) (249)
Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia: Clinical Features and Assignment of the Disease Gene to Chromosome 1p13-21 (2001) (248)
Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. (2003) (247)
PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. (2005) (246)
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. (2007) (243)
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade (2011) (237)
The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations (2003) (234)
Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). (2006) (228)
Familial Mediterranean fever with a single MEFV mutation: where is the second hit? (2009) (225)
Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope alleles. (2005) (217)
Classification criteria for autoinflammatory recurrent fevers (2019) (216)
A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. (2008) (214)
Specificity of the STAT4 Genetic Association for Severe Disease Manifestations of Systemic Lupus Erythematosus (2008) (207)
Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy (2009) (202)
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. (2001) (191)
Association of STAT4 with Rheumatoid Arthritis in the Korean Population (2007) (189)
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease (2016) (180)
Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome (2010) (174)
Variant form of STAT4 is associated with primary Sjögren's syndrome (2008) (171)
Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). (2012) (168)
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. (2003) (167)
The immunogenetics of Behçet's disease: A comprehensive review. (2015) (165)
Rilonacept for Colchicine-Resistant or -Intolerant Familial Mediterranean Fever (2012) (159)
Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review (2010) (158)
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease (2019) (155)
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. (2015) (155)
The Pyrin Inflammasome in Health and Disease (2019) (155)
Lighting the fires within: the cell biology of autoinflammatory diseases (2012) (154)
The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. (2008) (153)
STAT4: Genetics, mechanisms, and implications for autoimmunity (2008) (153)
Control of the innate immune response by the mevalonate pathway (2016) (151)
Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. (2009) (151)
Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. (2000) (141)
A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs (2011) (140)
Prostaglandin E2 Inhibits NLRP3 Inflammasome Activation through EP4 Receptor and Intracellular Cyclic AMP in Human Macrophages (2015) (139)
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease (2018) (139)
The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome. (2016) (135)
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease (2013) (134)
Strategic vision for improving human health at The Forefront of Genomics (2020) (130)
Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. (2009) (126)
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis (2015) (125)
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. (2016) (121)
Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications (2016) (118)
Diagnosis of Familial Mediterranean Fever by a Molecular Genetics Method (1998) (115)
Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity (2014) (112)
Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β (2015) (112)
Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. (2012) (112)
Localization of a gene causing cystinuria to chromosome 2p (1994) (111)
Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet’s disease susceptibility (2016) (111)
Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states (2001) (109)
Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. (2004) (108)
Treatment Strategies for Deficiency of Adenosine Deaminase 2. (2019) (106)
Efficacy of Etanercept in the Tumor Necrosis Factor Receptor–Associated Periodic Syndrome (TRAPS) (2012) (105)
Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression. (2015) (104)
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. (2016) (101)
Genetics of monogenic autoinflammatory diseases: past successes, future challenges (2011) (101)
Several Regions in the Major Histocompatibility Complex Confer Risk for Anti-CCP-Antibody Positive Rheumatoid Arthritis, Independent of the DRB1 Locus (2008) (101)
Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study (2018) (96)
Constitutively Activated NLRP3 Inflammasome Causes Inflammation and Abnormal Skeletal Development in Mice (2012) (96)
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy (2017) (93)
Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction. (2002) (92)
A Large-Scale Rheumatoid Arthritis Genetic Study Identifies Association at Chromosome 9q33.2 (2008) (90)
Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2. (2019) (89)
Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein (2009) (85)
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD) (2001) (85)
IL-1 blockade in Schnitzler syndrome: ex vivo findings correlate with clinical remission. (2008) (81)
Brief Report: Cryopyrin‐Associated Periodic Syndrome Caused by a Myeloid‐Restricted Somatic NLRP3 Mutation (2015) (79)
Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics (2015) (76)
The systemic autoinflammatory diseases: inborn errors of the innate immune system. (2006) (73)
Hereditary periodic fever syndromes. (2005) (70)
A fever gene comes in from the cold (2001) (68)
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis (2020) (65)
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype–phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden (2004) (63)
Brief Report: Anakinra Use During Pregnancy in Patients With Cryopyrin‐Associated Periodic Syndromes (2014) (61)
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS (2021) (59)
Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data (2009) (58)
Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome (2018) (58)
Brief Report: Connecting Two Pathways Through Ca2+ Signaling: NLRP3 Inflammasome Activation Induced by a Hypermorphic PLCG2 Mutation (2015) (57)
Common variants at CD 40 and other loci confer risk of rheumatoid arthritis (2008) (56)
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. (2021) (54)
Recent advances in the molecular pathogenesis of hereditary recurrent fevers (2006) (54)
Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed. (2016) (52)
A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers (2016) (52)
Pyrin Modulates the Intracellular Distribution of PSTPIP1 (2009) (51)
Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever (2000) (49)
Clinical and serological features of systemic sclerosis in a multicenter African American cohort (2017) (49)
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance (2001) (47)
Localization, expression and genomic structure of the gene encoding the human serine protease testisin. (2000) (46)
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors (2018) (46)
Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome. (2010) (45)
The inflammatory disease-associated variants in IL12B and IL23R are not associated with rheumatoid arthritis. (2008) (45)
The functional -169T-->C single-nucleotide polymorphism in FCRL3 is not associated with rheumatoid arthritis in white North Americans. (2006) (44)
Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6–10 November 2005 (2005) (42)
Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis (2020) (41)
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC (2019) (41)
Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits (2007) (38)
HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry (2019) (38)
Characterization of viable autofluorescent macrophages among cultured peripheral blood mononuclear cells. (2001) (37)
H-2-nonrestricted cytotoxic responses to an antigen encoded telomeric to H-2D. (1979) (37)
Fevers, genes, and innate immunity. (2008) (36)
The role of T cell receptor beta chain genes in susceptibility to rheumatoid arthritis. (1995) (36)
Genome-wide association study identifies variants in the MHC class I , IL 10 , and IL 23 R / IL 12 RB 2 regions associated with Behçet ' s disease (2016) (35)
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death (2021) (34)
Rheumatoid arthritis in the Pima Indians: the intersection of epidemiologic, demographic, and genealogic data. (1998) (33)
Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions (1999) (32)
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin‐1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis (2018) (31)
Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts (2012) (29)
When less is more: primary immunodeficiency with an autoinflammatory kick (2014) (29)
Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease (2017) (28)
Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases. (2017) (27)
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance (2020) (25)
Primary in vitro cytotoxic response of NZB spleen cells to Qa-1b- associated antigenic determinants (1979) (25)
Autoinflammation in 2010: Expanding clinical spectrum and broadening therapeutic horizons (2011) (25)
Identification of possible pathogenic pathways in Behçet’s disease using genome-wide association study data from two different populations (2014) (24)
Characterization and Analysis of the Proximal Janus Kinase 3 Promoter1 (2003) (24)
Hypophosphatasia and the risk of atypical femur fractures: a case–control study (2016) (23)
Qa-1-associated antigens. I. Generation of H-2-nonrestricted cytotoxic T lymphocytes specific for determinants of the Qa-1 region. (1979) (22)
CD5+ peritoneal B cells express high levels of membrane, but not secretory, C mu mRNA. (1991) (22)
Global Analyses of Human Immune Variation Reveal Baseline Predictors of Postvaccination Responses (2014) (22)
Hepatic Transcriptome Analysis of Hepatitis C Virus Infection in Chimpanzees Defines Unique Gene Expression Patterns Associated with Viral Clearance (2008) (22)
Surgical morbidity in patients with systemic lupus erythematosus. (1989) (22)
Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et al. (2006) (22)
The hereditary autoinflammatory syndromes. (2007) (21)
Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: speculations remain? (2002) (21)
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort (2022) (21)
Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2 (2020) (20)
Chapter 43 – PERIODIC FEVER SYNDROMES AND OTHER INHERITED AUTOINFLAMMATORY DISEASES (2011) (20)
Genetics, genomics, and their relevance to pathology and therapy. (2014) (19)
Direct quantitative in situ hybridization studies of Ig VH utilization. A comparison between unstimulated B cells from autoimmune and normal mice. (1989) (19)
Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20 (2019) (19)
Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease. (2018) (18)
Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory Disease (2020) (17)
Specificity of the STAT 4 Genetic Association for Severe Disease Manifestations of Systemic Lupus Erythematosus (2008) (17)
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. (2022) (17)
Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses (2006) (16)
REL, encoding a member of the NF-kB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis (2020) (16)
Construction of an ∼700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3 (1998) (16)
Chapter 47 – Periodic Fever Syndromes and Other Inherited Autoinflammatory Diseases (2016) (16)
Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever. (2003) (15)
HOIL and water: the two faces of HOIL-1 deficiency (2012) (15)
Evidence that Lyb-5 is a differentiation antigen in normal and xid mice. (1986) (15)
Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. (2005) (14)
The gene causing familial mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families (1994) (14)
A small molecule inhibitior of the NLRP 3 inflammasome is a potential therapeutic for inflammatory diseases (2015) (13)
Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3. (1999) (13)
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation (2021) (13)
TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2). (2021) (13)
CRITICAL SIGNALING EVENTS IN THE MECHANOACTIVATION OF HUMAN MAST CELLS VIA P.C492Y-ADGRE2. (2020) (13)
Excess Serum Interleukin‐18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1 (2021) (13)
CHAPTER 34 – PERIODIC FEVER SYNDROMES IN CHILDREN (2005) (13)
Disorders of ubiquitylation: unchained inflammation (2022) (13)
A splicing mutation (891+4A→G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family (1998) (13)
Lack of evidence of mycobacteria in synovial tissue from patients with rheumatoid arthritis. (1996) (12)
Human transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts. (2003) (12)
Erratum: Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type i IFN production (Journal of Clinical Investigation (2015) 125:11 (4196-4211) DOI: 10.1172/JCI81260) (2016) (12)
Genetic and molecular genetic studies of murine and human lupus. (1987) (12)
Regulatory mechanisms in cell-mediated immune responses. V. H-2 homology requirements for the production of a minor locus-induced suppressor factor (1977) (12)
Mapping of the Familial Mediterranean Fever Gene to Chromosome 16 (1992) (12)
Qa-1-associated antigens. II. Evidence for functional differentiation from H-2K and H-2D antigens. (1979) (11)
Determinants of B cell hyperactivity in murine lupus. (1988) (10)
A custom 148 gene‐based resequencing chip and the SNP explorer software: new tools to study antibody deficiency (2010) (10)
The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin‐1 Mediated Autoinflammatory Diseases: Cryopyrin‐Associated Periodic Syndromes, Tumour Necrosis Factor Receptor‐Associated Periodic Syndrome, Mevalonate Kinase Deficiency, an (2022) (10)
Genealogy construction in a historically isolated population: Application to genetic studies of rheumatoid arthritis in the Pima Indian (1999) (10)
Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3. (1998) (10)
Regulation of alloantigen-induced cytotoxic responses by concanavalin A-activated lymphoid cells: suppression by antigen elimination. (1978) (9)
The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, an (2022) (9)
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin (2022) (9)
Qa-1-associated antigens. III. Distribution of Qa-1 region antigens on lymphoid subpopulations. (1980) (9)
Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility (2005) (9)
Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia (1999) (9)
Brief Report: Whole‐Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans (2018) (9)
Identification of two Krüppel-related zinc finger genes (ZNF200 and ZNF210) from human chromosome 16p13.3. (1998) (8)
Genetic Variation : Evidence for Multiple Variants Associated with Rheumatoid Arthritis (2005) (8)
The Role of T‐Cell Receptor β Chain Genes in the Susceptibility to Rheumatoid Arthritis (1995) (7)
Recurrent Fever Syndromes (2013) (7)
PTPN 22 genetic variation : evidence for multiple variants associated with rheumatoid arthritis (2016) (7)
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis (2020) (6)
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 (2022) (6)
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. (2023) (6)
The chromosome 7q region association with rheumatoid arthritis in females in a British population is not replicated in a North American case-control series. (2009) (6)
Correction: Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation (2017) (6)
The Systemic Autoinflammatory Diseases: Coming of Age with the Human Genome. (2020) (5)
American College of Rheumatology Basic Research Conference: Genetics and genomics in rheumatic disease. (2002) (5)
Genome Wide Association Meta-Analysis Implicates HLA-DRB1, The BTNL2/HLA-DRA region, and a Novel Susceptibility Locus On Chromosome 1 In Systemic Juvenile Idiopathic Arthritis (2013) (5)
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features (2021) (5)
Autoinflammation: Past, Present, and Future (2019) (5)
Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease. Reply. (2021) (5)
Treatment of patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome: comment on the article by Matsubara et al. (2007) (4)
IL1RN Variation Influences both Disease Susceptibility and Response to Human Recombinant IL-1RA Therapy in Systemic Juvenile Idiopathic Arthritis (2018) (4)
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report (2021) (4)
Deficiency of adenosine deaminase 2: Is it an elephant after all? (2020) (3)
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two (2017) (3)
Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2 (2020) (3)
Approach to the use of antigen non-specific immunosuppression in systemic lupus erythematosus and other rheumatic autoimmune diseases (1988) (3)
Regulation of human development by ubiquitin chain editing of chromatin remodelers (2020) (3)
Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever. (2019) (3)
Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster (1991) (3)
Suppressor factor activity in cell-mediated immune responses. (1978) (3)
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site (2010) (3)
Genome-Wide Association Meta-Analysis of Eight Independent Systemic Juvenile Idiopathic Arthritis Collections Reveals Regional Association Spanning the Major Histocompatibility Complex Class II and III Gene Cluster (2012) (2)
Prostaglandin E2inhibits NLRP3 inflammasome activation through EP4 receptor and intracellular cAMP in human macrophages (2015) (2)
Reactive Oxygen Species Support the Normal Inflammatory Process and Promote Pathological Inflammation in the TNF ReceptorAssociated Periodic Syndrome (TRAPS) (2010) (2)
Hereditary periodic fever. (2002) (2)
Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error? (1993) (2)
STAT4: Genetics, Mechanisms, and Implications for Autoimmunity Review for Current Allergy and Asthma Reports (2008) (2)
Clonal Hematopoiesis in Vexas Syndrome (2022) (2)
Author Correction: A guiding map for inflammation (2020) (2)
NO LINKAGE OR ASSOCIATION OF TELOMERIC AND CENTROMERIC T‐CELL RECEPTOR β‐CHAIN MARKERS WITH SUSCEPTIBILITY TO TYPE 1 INSULIN‐DEPENDENT DIABETES IN HLA‐DR4 MULTIPLEX FAMILIES (1996) (2)
Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent (2012) (2)
A recurrent rash with fever and arthropathy. (2006) (2)
Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism (2021) (2)
Hereditary recurrent fevers (2011) (2)
OP0090 CLASSIFICATION OF PATIENTS WITH RELAPSING POLYCHONDRITIS BASED ON SOMATIC MUTATIONS IN UBA1 (2021) (1)
269 – The Systemic Autoinflammatory Diseases (2012) (1)
Common Variants of the Class I Major Histocompatibility Complex, IL10, CPLX1, and IL23R Genes Predispose to Behçet's Disease in the Turkish Population (2010) (1)
Major Histocompatibility Complex Class II Gene Cluster Harbors Systemic Juvenile Idiopathic Arthritis Susceptibility Locus (2011) (1)
A Large-Scale Rheumatoid Arthritis Genetic Study Identifies TRAF1 Variants on Chr 9q33.2 (2007) (1)
and colocalizes with actin filaments The familial Mediterranean fever protein , pyrin , associates with microtubules (2001) (1)
TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency (2014) (1)
VEXAS Syndrome and Disease Taxonomy in Rheumatology (2022) (1)
HEMATOPOIETIC STEM CELL TRANSPLANTATION RESCUES THE VASCULAR, HAEMATOLOGICAL AND IMMUNOLOGICAL PHENOTYPE IN ADENOSINE DEAMINASE 2 DEFICIENCY (2017) (1)
Somatic Mutations in a Single Residue of UBA1 Cause Vexas, a Severe Adult-Onset Rheumatic Disease Associated with Myeloid Dysplasia (2020) (1)
Genomic Deletions in Phospholipase C gamma 2 define a New Syndrome of Cold Urticaria, Antibody Deficiency and Susceptibility to Both Autoimmunity and Infection (2011) (0)
HLA contributions to risk and protection for anti-centromere autoantibody-positive scleroderma (2018) (0)
B through its N-terminal fragment κ and activates NF- The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 (2013) (0)
The identification of pathway markers in Behcet's disease using genomewide association data from two different populations (2012) (0)
Mediterranean fever Allogenic bone marrow transplantation: not a treatment yet for familial (2011) (0)
Mutant ADA2 in vasculopathies. (2014) (0)
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy (2022) (0)
Evaluation of the effects of disease-causing mutations in type I TNF receptor (TNFR1) on neutrophil responses (140.8) (2010) (0)
165 – Monogenic autoinflammatory diseases (2015) (0)
Cytotoxic responses between h-2 identical m-locus differing mice. Abstr. (1977) (0)
Mechanism of suppression of alloantigen-induced cytotoxic responses by concanavalin a-activated lymphoid cells. Abstr. (1978) (0)
HA20: A Novel Autoinflammatory Disease Caused By Haploinsufficiency of A20, Encoded By TNFAIP3 (2015) (0)
Genetic Architecture of Systemic Juvenile Idiopathic Arthritis Distinguishes It from Oligoarticular and Polyarticular Forms of Juvenile Idiopathic Arthritis (2016) (0)
STING-SAVI Paper NEJM (2015) (0)
Gene-environment Interaction: Dysregulation Of Pyrin, The Familial Mediterranean Fever Protein, Exacerbates Endotoxin-induced Uveitis In Mice (2011) (0)
Galantamine attenuates autoinflammation in a mouse model of familial mediterranean fever (2022) (0)
Tu1725 Deficiency of Adenosine Deaminase 2 (DADA2); A Rare Cause of Hepatoportal Sclerosis and Non-Cirrhotic Portal Hypertension (2016) (0)
Contributors (2012) (0)
Predominant role of monocytes rather than neutrophils in the pathogenesis of the familial autoinflammatory disease TRAPS (TNFR-associated Periodic Syndrome) (54.3) (2011) (0)
Ophthalmic manifestations of ROSAH Syndrome, an inherited NF-κB mediated autoinflammatory disease with retinal dystrophy. (2022) (0)
Challenges and opportunities for systemic amyloidosis research. Summary of an Advisory Workshop Sponsored by the NIH Office of Rare Diseases, Bethesda, Maryland, June 20, 2006 (2007) (0)
Irish society for rheumatology Proceedings of Annual General Meeting held 14th October, 1994 at St. James’s Hospital, Dublin 8 (1995) (0)
CARNEY COMPLEX : CONFIRMATION OF THE CHROMOSOME 2p16 LOCUS, EXCLUSION OF THE hMSH-2, -6, & CALNB1 GENES AND CONSTRUCTION OF A GENETIC AND PHYSICAL MAP OF THE REGION. • 584 (1996) (0)
Effekte der Physiotherapie bei Patienten der Palliativstation (2006) (0)
Activation of the NLRP1 Inflammasome Induces the Pyroptotic Death of Hematopoietic Progenitor Cells (2012) (0)
Spectrum of clonal hematopoiesis in VEXAS syndrome. (2023) (0)
The effect of bleomycin (Bleo) on immunocompetence in man (1975) (0)
Nuts and Bolts of Inflammasome Biology (2014) (0)
Diagnosing Periodic Fever Syndromes Beyond PFAPA (2005) (0)
Qa-1-Associated Antigens (1979) (0)
Family kipping and Causes Cystinuria (1998) (0)
somatic) syndrome is a disease with rheumatologic and hematologic features caused by somatic variants in UBA1. Pathogenic variants are associated with a broad spectrum of clinical manifestations. Knowledge of prevalence, penetrance, and clinical characteristics of this disease (2022) (0)
Mutation in Pyrin Predisposes to Uveitis with Clinical Features Akin to Behçet’s Disease (2012) (0)
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease (2019) (0)
141 Mutated TNF-receptor Type 1 in TNF-receptor Associated Periodic Syndrome (TRAPS): TNF-Independent Hyper-responsiveness Through ER-retained, Misfolded Receptors (2007) (0)
Receptor and Intracellular Cyclic AMP in Inflammasome Activation through EP4 Inhibits NLRP3 2 Prostaglandin E (2015) (0)
Rheumatology and Signal Transduction (2003) (0)
MCC950 is a potent and specific inhibitor of the NLRP3 inflammasome and a novel potential therapeutic for NLRP3 driven diseases (2014) (0)
Next generation sequencing panel screening of 320 patients with clinically unclassified systemic autoinflammatory diseases (2021) (0)
Reply to Stoimenis et al (2015) (0)
Thrombotic Manifestations in Patients with Vexas Syndrome (2022) (0)
Identification of multiple genetic susceptibility loci for Behçet’s disease (2014) (0)
Case report: Novel variants in RELA associated with familial Behcet’s-like disease (2023) (0)
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency (2023) (0)
Intracellular accumulation of mutant TNFR1 potentiates MAP‐Kinase signaling and innate immune responses in the TNF‐receptor associated Periodic Syndrome (TRAPS) (2008) (0)
STING-SAVI nejm appendix (2015) (0)
PFAPA: a single phenotype with genetic heterogeneity (2012) (0)
OR.26. Animal Models of Inflammasomapathy Solely Implicate the Innate Immune System in Pathogenesis, with an Important but not Universal Role for IL-1β (2009) (0)
Radiobiological evidence for suppressor cell heterogeneity. Abstr. (1976) (0)
126: Inflammasome activation due to polymerized actin triggers an autoinflammatory disease that is dependent on IL-18, not IL-1β (2014) (0)
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance (2020) (0)

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