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List of works by Daniel L. Kastner

30

A Genomewide Screen in Multiplex Rheumatoid Arthritis Families Suggests Genetic Overlap with Other Autoimmune Diseases

scholarly article by Damini Jawaheer et al published April 2001 in American Journal of Human Genetics

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

scientific article

A guiding map for inflammation

scientific article published on July 2017

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

scientific article

A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.

scientific article

A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis

scientific article

A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs

scientific article

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

scientific article

A recurrent rash with fever and arthropathy

scientific article

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers

scientific article published on 23 May 2016

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

scientific article

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

scientific article published on 9 January 2018

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

scientific article published on 25 May 2015

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

scientific article published on 22 January 2018

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

scientific article published on 9 May 2006

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

scientific journal article

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

scientific article published in February 2016

Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy

scientific article

Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever

scientific article published on 01 July 2003

American College of Rheumatology Basic Research Conference: Genetics and genomics in rheumatic disease

scientific article published on 01 February 2002

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

scientific article

Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).

scientific article

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

scientific article published on 29 June 2020

Association of STAT4 with rheumatoid arthritis in the Korean population

scientific article

Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons

scientific article

Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses

scientific article

Autoinflammatory disease reloaded: a clinical perspective

scientific article published on March 2010

Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity

scientific article

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

scientific article

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

scientific article published on 23 May 2017

Brief Report: Genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) ⬇️

scientific article published on December 12, 2011

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans

article

CATERPILLERs, pyrin and hereditary immunological disorders

scientific article

CRITICAL SIGNALING EVENTS IN THE MECHANOACTIVATION OF HUMAN MAST CELLS VIA P.C492Y-ADGRE2

scientific article published on 25 March 2020

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

Characterization and analysis of the proximal Janus kinase 3 promoter

scientific article published on 01 June 2003

Clinical and serological features of systemic sclerosis in a multicenter African American cohort: Analysis of the genome research in African American scleroderma patients clinical database

scientific article published in December 2017

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review ⬇️

scientific article published on November 1, 2010

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

scientific article published on 11 January 2012

Common genetic susceptibility loci link PFAPA syndrome, Behçet's disease, and recurrent aphthous stomatitis

scientific article published on 09 June 2020

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

scientific article published on 14 September 2008

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

scientific article

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation

scientific article

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

scientific article published on 12 August 2018

Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice

scientific article

Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3

scientific article

Control of the innate immune response by the mevalonate pathway.

scientific article published on 06 June 2016

Corrigendum: The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

scientific article published in October 2017

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

scientific article published on May 2007

Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits

scientific article

Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data

scientific article

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

scientific article

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

scientific article published on 08 July 2020

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

scientific article published on 23 April 2019

Deficiency of adenosine deaminase 2: Is it an elephant after all?

scientific article published on 27 April 2020

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

scientific article

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome

scientific article published on 21 August 2018

EULAR recommendations for the management of familial Mediterranean fever

scientific article

Early-onset stroke and vasculopathy associated with mutations in ADA2

scientific article

Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses

scientific article

Efficacy of etanercept in the tumor necrosis factor receptor–associated periodic syndrome: A prospective, open‐label, dose‐escalation study ⬇️

scientific article published on March 1, 2012

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics

scientific article

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

scientific article published on June 2009

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

scientific article

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

scientific article

Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression

scientific article published in July 2015

Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice

scientific article

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis

scientific article published on 21 August 2020

Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations

scientific article published on February 2009

Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

scientific article

Genetics of monogenic autoinflammatory diseases: past successes, future challenges ⬇️

scientific article published on 05 July 2011

Genetics, genomics, and their relevance to pathology and therapy

scientific article

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

scientific journal article

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

scientific article

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

scientific article

Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases

scientific article

HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry

scientific article published on 23 December 2019

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

scientific article

HOIL and water: the two faces of HOIL-1 deficiency

scientific article published on 01 December 2012

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.

scientific article published in March 2004

Hepatic Transcriptome Analysis of Hepatitis C Virus Infection in Chimpanzees Defines Unique Gene Expression Patterns Associated with Viral Clearance

scientific article (publication date: 2008)

Hereditary periodic fever

scientific article published on 01 May 2002

Hereditary periodic fever syndromes

scientific article published on 01 January 2005

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

scientific article

Human transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts.

scientific article published on April 2003

Hypophosphatasia and the risk of atypical femur fractures: a case-control study

scientific article

IL-1 blockade in Schnitzler syndrome: Ex vivo findings correlate with clinical remission

scientific article published on 22 October 2007

IL1RN Variation Influences both Disease Susceptibility and Response to Human Recombinant IL-1RA Therapy in Systemic Juvenile Idiopathic Arthritis

scientific article published on 2 April 2018

Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations

scientific article

Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome

scientific article

Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.

scientific article published on 04 June 2009

Lighting the fires within: the cell biology of autoinflammatory diseases ⬇️

scientific article published on July 25, 2012

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

scientific article published on 20 January 2021

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

scientific article published on November 2004

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

scientific article published on 7 December 2015

Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

scientific article

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS) ⬇️

scientific article published on January 31, 2011

Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction

scientific article published on August 2002

Mutational analysis in neonatal-onset multisystem inflammatory disease: Comment on the articles by Frenkel et al and Saito et al

article

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cells

scientific article

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

scientific article

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

scientific article

Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease

scientific article published on 01 August 2018

Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome.

scientific article

Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed

scientific article published on 2 June 2016

PFAPA: a single phenotype with genetic heterogeneity.

scientific article

PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis

scientific article

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade

scientific article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

Prostaglandin E2 Inhibits NLRP3 Inflammasome Activation through EP4 Receptor and Intracellular Cyclic AMP in Human Macrophages

scientific article published on 27 April 2015

Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever

scientific article published on 15 July 2019

Pyrin Modulates the Intracellular Distribution of PSTPIP1.

scientific article

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway ⬇️

scientific article published on October 31, 2003

Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS

scientific article

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis

scientific article published on 07 June 2009

Recent advances in the molecular pathogenesis of hereditary recurrent fevers

scientific article published on December 2006

Regulation of anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis: contrasting effects of HLA-DR3 and the shared epitope alleles

scientific article published on December 2005

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

scientific article

Reply to Stoimenis et al.

scientific article published on 14 January 2015

Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial.

scientific article published on October 2012

STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus

scientific article published on September 2007

STAT4: genetics, mechanisms, and implications for autoimmunity

scientific article

Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families

scientific article published in April 2003

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

article by Hirotsugu Oda et al published 2019 in Frontiers in Immunology

Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus

scientific article

Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus

scientific article

Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent

scientific article

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study

scientific article

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency

scientific article published on 17 September 2014

Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis

scientific article published on March 2003

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

scientific article

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production

scholarly article

The Pyrin Inflammasome in Health and Disease

scientific article published on 07 August 2019

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder

scientific article

The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome

scientific article published on 23 August 2016

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

scientific article

The chromosome 7q region association with rheumatoid arthritis in females in a British population is not replicated in a North American case-control series

scientific article

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

scientific article

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

scientific article

The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment

scientific article

The functional −169T→C single-nucleotide polymorphism inFCRL3 is not associated with rheumatoid arthritis in white North Americans

scholarly article by Xiaolan Hu et al published 2006 in Arthritis and Rheumatism

The hereditary autoinflammatory syndromes

scientific article published on April 2007

The immunogenetics of Behçet's disease: A comprehensive review

scientific article

The inflammatory disease-associated variants in IL12B and IL23R are not associated with rheumatoid arthritis

scientific article

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

scientific article

Treatment Strategies for Deficiency of Adenosine Deaminase 2

scientific article published on 01 April 2019

Treatment of patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome: comment on the article by Matsubara et al

scientific article published on 01 June 2007

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20

scientific article published on 25 November 2019

Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site

scientific article

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

scientific article

When less is more: primary immunodeficiency with an autoinflammatory kick

scientific article

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