List of works - Ivona Aksentijevich

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

scientific article published on 01 August 2015

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

scientific article

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

scientific article published on 11 December 2019

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

scientific article

A20 Haploinsufficiency Presenting with a Combined Immunodeficiency

scientific article published on 15 July 2020

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

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

scientific article published on 18 May 2017

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

scientific article published on 22 January 2018

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

Adenosine Deaminase 2 Deficiency

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis

scientific article published on 25 February 2016

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

scientific article

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

scientific article

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

scientific article published on 29 June 2020

Apolipoprotein E genotypes in AA and AL amyloidoses

article

Autoinflammatory disease reloaded: a clinical perspective

scientific article published on March 2010

Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.

scientific article published on January 2006

Autoinflammatory diseases: clinical and genetic advances

scientific article published on March 2008

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

scientific journal article

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease

article published in 2019

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

Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate

scientific article published on 08 July 2020

Chronic urticaria of neonatal onset: a potential sign of autoinflammation

scientific article published on 01 October 2010

Clarithromycin in adult-onset still's disease: a potentially useful therapeutic

scientific article published on 01 October 2011

Classification criteria for autoinflammatory recurrent fevers

scientific article published on 24 April 2019

Clinical presentations and molecular basis of complement C1R mutation in a large turkish family.

scientific article published on 17 September 2014

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

scientific article published on November 1, 2010

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

scientific article published on November 2007

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

scientific article published on 11 January 2012

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

scientific article

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

scientific article

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

scientific article published in October 2017

Current State of Precision Medicine in Primary Systemic Vasculitides

scientific article published on 17 December 2019

Current and future advances in genetic testing in systemic autoinflammatory diseases

scientific article published on 01 November 2019

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

Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency ⬇️

scientific article published on December 12, 2011

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

scientific article published on 14 August 2020

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 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment

article

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.

scientific article published on 14 June 2018

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 interleukin-1 receptor antagonist responsive to anakinra

scientific article published on 4 April 2012

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

scientific article published on January 24, 2012

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

scientific article published on 31 July 2018

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2

scientific article published on 21 June 2018

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

scientific article published on 21 August 2018

Early-onset stroke and vasculopathy associated with mutations in ADA2

scientific article

Editorial: Autoinflammatory Diseases: From Genes to Bedside

scientific article published on 19 June 2020

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

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

scientific article published on June 2009

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

scientific article

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

scientific article published on 05 July 2011

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

scientific article

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

scientific article

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity

scientific article published on 01 January 2019

Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells

scientific article published on 23 September 2016

Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)

scientific article published on 20 July 2020

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

scientific article published on 01 April 2020

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

scientific article

Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis ⬇️

scientific article published on June 1, 2012

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

scientific article

Lessons from characterization and treatment of the autoinflammatory syndromes ⬇️

scientific article published on 30 November 2016

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

scientific article published on 20 January 2021

Long-term efficacy of etanercept in ADA2 deficiency

scientific article published on 17 September 2014

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

scientific article published on 7 December 2015

Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation

scientific article published on 17 July 2020

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

scientific article

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

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases

scientific article

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

scientific article

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

scientific article

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

scientific article

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

scientific article

New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond

scientific article published on 05 March 2020

New players driving inflammation in monogenic autoinflammatory diseases

scientific article published on 23 September 2014

PFAPA: a single phenotype with genetic heterogeneity.

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

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

scientific article

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

article

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

Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant

scientific article

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

scientific article published on 05 May 2020

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

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases

scientific article published on 26 May 2015

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

scientific article published on 27 October 2020

TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.

scientific article

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

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

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 autoinflammatory syndromes

scientific article published on December 2002

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

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 first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist

scientific article published on 01 December 2011

The infevers autoinflammatory mutation online registry: update with new genes and functions.

scientific article

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

scientific article

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

scientific article published on October 8, 2010

The use of leukocytes' secretome to individually target biological therapy in autoimmune arthritis: a case report

scientific article published on 05 June 2019

Treatment Strategies for Deficiency of Adenosine Deaminase 2

scientific article published on 01 April 2019

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

scientific article published on January 2009

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

scientific article published on 25 November 2019

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

scientific article published on 17 April 2015

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years

scientific article published on 10 April 2015

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

scientific article

List of works by Ivona Aksentijevich

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

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

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

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

A20 Haploinsufficiency Presenting with a Combined Immunodeficiency

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

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

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

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

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

Adenosine Deaminase 2 Deficiency

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis

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

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

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

Apolipoprotein E genotypes in AA and AL amyloidoses

Autoinflammatory disease reloaded: a clinical perspective

Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.

Autoinflammatory diseases: clinical and genetic advances

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

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease

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

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

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

Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate

Chronic urticaria of neonatal onset: a potential sign of autoinflammation

Clarithromycin in adult-onset still's disease: a potentially useful therapeutic

Classification criteria for autoinflammatory recurrent fevers

Clinical presentations and molecular basis of complement C1R mutation in a large turkish family.

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

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

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

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

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

Current State of Precision Medicine in Primary Systemic Vasculitides

Current and future advances in genetic testing in systemic autoinflammatory diseases

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

Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency ⬇️

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

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

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.

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

Deficiency of interleukin-1 receptor antagonist responsive to anakinra

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

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2

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

Early-onset stroke and vasculopathy associated with mutations in ADA2

Editorial: Autoinflammatory Diseases: From Genes to Bedside

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

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

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

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

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

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

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity

Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells

Human induced pluripotent stem cells generated from a patient with a homozygous L272P mutation in the OTULIN gene (NIHTVBi014-A)

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

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

Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis ⬇️

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

Lessons from characterization and treatment of the autoinflammatory syndromes ⬇️

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

Long-term efficacy of etanercept in ADA2 deficiency

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

Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation

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

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

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases

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

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

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

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

New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond

New players driving inflammation in monogenic autoinflammatory diseases

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