I. Aksentijevich

D. Kastner, M. Lokuta, A. Huttenlocher, 2005, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

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

C. Rotimi, D. Shriner, E. Remmers, 2020, Nature Immunology.

Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome.

V. Trajković, Nevena Zogović, I. Aksentijevich, 2013, Immunobiology.

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

O. Ohara, A. Hijikata, T. Nakahata, 2012, DNA research : an international journal for rapid publication of reports on genes and genomes.

Brief Report: Clinical and Molecular Phenotypes of Low‐Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges

R. Goldbach-Mansky, N. Blank, J. Kuemmerle-Deschner, 2017, Arthritis & rheumatology.

Regulation of human development by ubiquitin chain editing of chromatin remodelers

Ellen F. Macnamara, Ryan K. Dale, Pedro P. Rocha, 2020, bioRxiv.

Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility

E. Remmers, D. Kastner, I. Aksentijevich, 2005, Scandinavian journal of rheumatology.

Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of ‘intermediate risk’

E. Eliopoulos, E. Galanakis, P. Sidiropoulos, 2007, Clinical genetics.

The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience

O. Kalashnikova, V. Chasnyk, I. Aksentijevich, 2022, Frontiers in Pediatrics.

Cryopyrin-associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

E. Remmers, D. Kastner, A. Walts, 2015 .

Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.

L. Deaven, N. Doggett, J. Rotter, 1997, Genomics.

Apolipoprotein E genotypes in AA and AL amyloidoses

W. Markesbery, R. Kyle, M. Pras, 1995 .

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives

C. Cudrici, I. Aksentijevich, N. Deuitch, 2020, International journal of molecular sciences.

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

H. Ostrer, D. Kastner, M. Pras, 1999, American journal of human genetics.

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

D. Kastner, B. Salzberger, U. Mueller-Ladner, 2010, Modern rheumatology.

Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases.

J. G. Ryan, I. Aksentijevich, 2009, Arthritis and rheumatism.

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

J. G. Ryan, E. Remmers, D. Kastner, 2009, Annals of the rheumatic diseases.

Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

E. Eliopoulos, G. Goulielmos, D. Boumpas, 2006, Biochemical and biophysical research communications.

A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.

E. Remmers, F. Saulsbury, I. Aksentijevich, 2010, Clinical and experimental rheumatology.

Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?

D. Kastner, M. Pras, E. Pras, 1993, Human Genetics.

and colocalizes with actin filaments The familial Mediterranean fever protein , pyrin , associates with microtubules

D. Kastner, J. Chae, H. Komarow, 2001 .

Angiotensin I converting enzyme gene polymorphisms in systemic lupus erythematosus: decreased prevalence of DD genotype in African American patients.

J. Salmon, J. Davis, D. Boumpas, 1998, Clinical nephrology.

Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.

R. Richards, K. Holman, G. Sutherland, 1993, American journal of human genetics.

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

J. G. Ryan, D. Kastner, Hong-Wei Sun, 2012, Annals of the rheumatic diseases.

Case report: Novel variants in RELA associated with familial Behcet’s-like disease

D. Kastner, R. Laxer, D. Stone, 2023, Frontiers in Immunology.

The autoinflammatory syndromes

M. McDermott, I. Aksentijevich, 2002, Current opinion in allergy and clinical immunology.

Deficiency of Interleukin‐1 Receptor Antagonist Responsive to Anakinra

R. Goldbach-Mansky, I. Aksentijevich, A. Duarte, 2013, Pediatric dermatology.

A splicing mutation (891+4A→G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family

D. Kastner, E. Pras, I. Aksentijevich, 1998, Human mutation.

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

F. Collins, N. Doggett, J. Rotter, 1997, Genomics.

Deficiency of Adenosine Deaminase 2 (DADA2) — A New Autoinflammatory Disease with Multisystem Features

I. Aksentijevich, R. Khubchandani, 2020, Indian Pediatrics.

Atypical late presentation in neonatal-onset multisystem inflammatory disease (NOMID)

M. Kabra, Suvasini Sharma, V. Kalra, 2009, Journal of Pediatric Neurology online.

Internal standard-based analysis of microarray data2—Analysis of functional associations between HVE-genes

P. Tighe, N. Chiorazzi, J. Ryan, 2011, Nucleic acids research.

OP0090 CLASSIFICATION OF PATIENTS WITH RELAPSING POLYCHONDRITIS BASED ON SOMATIC MUTATIONS IN UBA1

D. Kastner, M. Gadina, P. Grayson, 2021 .

TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency

D. Kastner, C. Toro, A. Soldatos, 2023, Neurology: Neuroimmunology & Neuroinflammation.

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Yuan Zhang, Wanjin Li, Jinqiao Sun, 2019, Nature.

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

F. Collins, N. Doggett, R. Moyzis, 1998, Genome Research.

Structural biology of shared cytokine receptors.

P. Gregersen, K. Garcia, D. Kastner, 2009, Annual review of immunology.

PW02-002 - Single MVK mutation and recurrent fevers

I. Aksentijevich, D. Kastner, D. Goldsmith, 2013, Pediatric Rheumatology.

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.

R. Ichord, T. Torgerson, D. Kastner, 2023, JAMA network open.

T cell repertoire breadth is associated with the number of acute respiratory infections in the LoewenKIDS birth cohort

O. Purschke, P. Riese, T. Strowig, 2023, Scientific reports.

The role of the pro-apoptotic protein Siva in the pathogenesis of Familial Mediterranean fever: A structural and functional analysis.

D. Kardassis, E. Eliopoulos, D. Iliopoulos, 2010, Biochemical and biophysical research communications.

Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features

D. Kastner, J. Milner, D. Schwartz, 2021, Annals of the Rheumatic Diseases.

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Eric O Long, K. Shianna, D. Goldstein, 2012, The New England journal of medicine.

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB

S. Rosenzweig, H. Kuehn, I. Aksentijevich, 2020, Journal of clinical immunology.

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases

I. Aksentijevich, B. Navetta-Modrov, H. Nomani, 2023, Frontiers in immunology.

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

D. Kastner, D. Kuhns, M. Gadina, 2021, Pediatric Rheumatology.

The autoinflammatory syndromes

I. Aksentijevich, M. McDermott, 2002, Current Opinion in Allergy and Clinical Immunology.

Editorial: Autoinflammatory Diseases: From Genes to Bedside

J. Hernández-Rodríguez, I. Aksentijevich, A. Soriano, 2020, Frontiers in Immunology.

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

K. Dobbs, B. Boisson, J. Toguchida, 2024, Nature immunology.

Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne

D. Stone, P. Hoffmann, J. Chae, 2024, Annals of the Rheumatic Diseases.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

D. Kastner, C. Biben, S. Rosenzweig, 2019, Nature.