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List of works by Juan I Arostegui

A 37-years old man with recurrent episodes of fever and abdominal pain

scientific article published on 4 June 2012

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

scientific article

A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation

article

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

scientific article published on 01 August 2009

A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.

scientific article published on 23 August 2017

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

scientific article published on 25 February 2013

A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV-associated per

article

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanis

scientific article published in April 2010

A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene

article

Abnormal serum free light chain ratio in patients with multiple myeloma in complete remission has strong association with the presence of oligoclonal bands: implications for stringent complete remission definition

scientific article published on 01 October 2009

Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre

scientific article published on 01 November 2019

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

scientific article published on 30 June 2015

Acute generalized exanthematous pustulosis and polyarthritis associated with a novel CARD14 mutation.

scientific article published on 3 August 2017

An international registry on autoinflammatory diseases: the Eurofever experience

scientific article

An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.

scientific article

Assessment of the gene mosaicism burden in blood and its implications for immune disorders

scientific article published on 21 June 2021

Association of intermittent hydrarthrosis withMEFV gene mutations

article

Atypical manifestations in CAPS sydrome: not so unfrequent?

scientific article

B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

scientific article

Behçet's disease and hereditary periodic fever syndromes: casual association or causal relationship?

scientific article

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

scientific article published on 14 March 2019

Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series.

scientific article published on 5 September 2017

Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.

scientific article

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

scientific article published on 18 March 2016

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

scientific article published on 25 November 2015

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

scientific article

Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

scientific article published on January 2014

Bullous pemphigoid associated with acute glomerulonephritis

scientific article published on 01 May 1998

CIAS1 and NOD2 Genes in Adult-onset Still’s Disease

article

Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome

scientific article published on December 2009

Chronic urticaria in infants as the first manifestation of autoinflammatory disease

scientific article published on 30 August 2018

Classification criteria for autoinflammatory recurrent fevers

scientific article published on 24 April 2019

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

scientific article published on 20 August 2015

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.

scientific article

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience

scientific article published on 28 January 2012

Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

scientific article published on December 2004

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

scientific article

Clinical manifestations of four patients diagnosed with early-onset sarcoidosis or sarcoid-like syndrome

scientific article published on 17 September 2014

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency

scientific article published on 23 January 2012

Clues to management of neonatally diagnosed BTK deficiency.

scientific article

Combined type-1 plasminogen activator inhibitor and NOD2/CARD15 genotyping predicts complicated Crohn's disease behaviour

scientific article published on 7 December 2006

Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation

article

Complement factor H binding of monomeric C-reactive protein downregulates proinflammatory activity and is impaired with at risk polymorphic CFH variants

scientific article published on 10 March 2016

Copy number variation in the CCL4L gene is associated with susceptibility to acute rejection in lung transplantation

article

Crohn's disease patients carrying Nod2/CARD15 gene variants have an increased and early need for first surgery due to stricturing disease and higher rate of surgical recurrence.

scientific article

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

scientific article

DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes.

scientific article published on 6 July 2016

Deficiency of adenosine deaminase 2 (DADA2) in Adults and Children: Experience from India

scientific article published on 06 September 2020

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.

scientific article

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation

scientific article

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.

scientific article published on 28 September 2015

Diagnostic Value of C4d in Renal Allograft Biopsies in Different Clinical Settings: Absence of C4d in Grafts From Non-Heart-Beating Donors

scientific article published on 01 November 2005

Differential humoral responses against heat-shock proteins after autologous stem cell transplantation in multiple myeloma

scientific article

Disparity for the minor histocompatibility antigen HA-1 is associated with an increased risk of acute graft-versus-host disease (GvHD) but it does not affect chronic GvHD incidence, disease-free survival or overall survival after allogeneic human leu

Documento de Consenso de la Sociedad de Infectología Pediatrica y la Sociedad de Reumatología Pediatrica sobre el diagnóstico diferencial y el abordaje terapéutico de la fiebre recurrente

scientific article published in March 2011

Dynamics of Plasma Cytokines in a Patient with Deficiency of Interleukin-36 Receptor Antagonist Successfully Treated with Anakinra

scientific article

Effect of NOD2/CARD15 variants in T-cell depleted allogeneic stem cell transplantation

scientific article published on 01 October 2006

Efficacy and safety of canakinumab in cryopyrin-associated periodic syndromes: results from a Spanish cohort.

scientific article published on 5 August 2015

Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor-associated periodic syndrome due to the R92Q TNFRSF1A variant

scientific article published on 19 December 2016

Emergence of oligoclonal bands in patients with multiple myeloma in complete remission after induction chemotherapy: association with the use of novel agents

scientific article

Enfermedades autoinflamatorias sistémicas hereditarias

scientific article published on 13 May 2010

Enfermedades autoinflamatorias sistémicas hereditarias. Parte II: síndromes periódicos asociados a criopirina, granulomatosis sistémicas pediátricas y síndrome PAPA

scientific article published on 01 March 2008

Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response

scientific article

Etiopatogenia de los síndromes asociados a criopirina: genética, bases moleculares y el inflamasoma

scientific article published on 01 January 2011

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

scientific article published on 14 May 2018

Evolving M-protein pattern in patients with smoldering multiple myeloma: impact on early progression

scientific article published on 2 February 2018

Expanding the clinical features of autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation by description of a novel patient

scientific article published on 24 October 2019

Familial CD8 deficiency due to a mutation in the CD8 alpha gene.

scientific article

Fiebre mediterránea familiar

scientific article published on 03 March 2009

Fiebre mediterránea familiar

scientific article published on 26 May 2009

First Egyptian patient with STING-associated vasculopathy with onset in infancy

scientific article published on 22 February 2019

First demonstrated de novo insertion in the prion protein gene in a young patient with dementia

article

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.

scientific article published on 13 March 2013

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

scientific article published on 20 August 2019

Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children

scientific article published on 10 May 2016

HLA-B44 subtyping in the Catalan population using reference strand mediated conformation analysis. Implications for the selection of unrelated bone marrow donors

scientific article published on 01 August 2000

Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge

scientific article published on May 2015

Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes

scientific article

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

scientific article

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

scientific article

Hiper IgD syndrome (HIDS): clinical and genetic features in five patients

scientific article published on 15 September 2008

Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype

scientific article published on 18 March 2014

Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotype.

scientific article

I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?

scientific article published in August 2002

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

scientific article

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis

scientific article published on 12 November 2014

Impact of Autologous Stem Cell Transplantation on the Incidence and Outcome of Oligoclonal Bands in Patients with Light-Chain Amyloidosis.

scientific article published on 18 April 2017

Inherited biallelic CSF3R mutations in severe congenital neutropenia.

scientific article

Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129.

scientific article published on 2 February 2012

Innate lymphoid cells integrate stromal and immunological signals to enhance antibody production by splenic marginal zone B cells.

scientific article published on 23 February 2014

Kurzfristige Wirksamkeit von Adalimumab bei einer Patientin mit pyrinassoziierter autoinflammatorischer Erkrankung mit neutrophiler Dermatose

scientific article published on 01 June 2018

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

scientific article

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients.

scientific article

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience ⬇️

scientific article published on 31 October 2017

Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study

scientific article published on 28 September 2015

MCC950 closes the active conformation of NLRP3 to an inactive state

scientific article published on 13 May 2019

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

scientific article published on 15 May 2013

May Some Cases of Intermittent Hydrarthrosis Represent an Atypical Form of Calcium Pyrophosphate Dihydrate Crystal Deposition Disease? Usefulness of Mutational Analysis of the MEFV Gene

article

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency.

scientific article

Molecular genetic investigation, clinical features and response to treatment in 21 patients with Schnitzler's syndrome ⬇️

scientific article

Multiple Myeloma in Serologic Complete Remission after Autologous Stem Cell Transplantation: Impact of Bone Marrow Plasma Cell Assessment by Conventional Morphology on Disease Progression

NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort

scientific article

NOD2 mosaicism in Blau syndrome.

scientific article published on 28 September 2015

NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.

scientific article published on June 2009

Natural history and prognostic impact of oligoclonal humoral response in patients with multiple myeloma after autologous stem cell transplantation: long-term results from a single institution

scientific article published on 03 May 2013

Neurological manifestations in Erdheim-Chester disease: Two case reports.

scientific article published on 13 April 2014

Neutropenia congénita grave: análisis de las características clínicas, estudios diagnósticos, tratamiento y seguimiento a largo plazo

scientific article published on 14 July 2011

New insights into the molecular basis of systemic vasculitis

scientific article published on 13 May 2014

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

scientific article published on 29 March 2018

Newly Described Autoinflammatory Diseases in Pediatric Dermatology

scientific article

No association of the Val66Met polymorphism of brain-derived neurotrophic factor (BDNF) to multiple sclerosis.

scientific article published on 13 December 2005

Non-Hodgkin lymphoma in pediatric patients with common variable immunodeficiency.

scientific article published on 10 March 2015

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

scientific article published on 9 January 2017

OR3-002 – Blau Syndrome cohort study: ocular outcome

scientific article

Open-Label, Phase II Study to Assess the Efficacy and Safety of Canakinumab Treatment in Active Hyperimmunoglobulinemia D With Periodic Fever Syndrome

scientific article published on 8 May 2017

Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome).

scientific article published on 10 September 2014

P02-002 - IL36RN mutations in patients with DITRA.

scientific article

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations.

scientific article

PReS-FINAL-2330: Canakinumab treatment in patients with HIDS.

scientific article published on 5 December 2013

PReS-FINAL-2337: The eurofever registry: 3 years of enrollment.

scientific article published on 5 December 2013

PW02-007 - The Eurofever registry: 3 years of enrollment.

scientific article

PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype.

scientific article

PW02-024-B - First report of AA amyloidosis in Blau syndrome.

scientific article

PW03-016 – Blau prospective cohort study: articular outcomes.

scientific article

PW03-035 – Autoinflammatory diseases diagnostic chart/tool

scientific article

Plasma stromal cell-derived factor (SDF)-1 levels, SDF1-3'A genotype, and expression of CXCR4 on T lymphocytes: their impact on resistance to human immunodeficiency virus type 1 infection and its progression

scientific article published on 13 September 2002

Polirradiculoneuritis, síndromes periódicos asociados a criopirina y fiebre mediterránea familiar

Positive clinical and biochemical responses to anakinra in a 3-yr-old patient with cryopyrin-associated periodic syndrome (CAPS)

article

Possible association between NOD2 variants and joint surgery in psoriatic arthritis

scientific article published on 01 January 2010

Predictive value of selected biomarkers, polymorphisms, and clinical features for oligoarticular juvenile idiopathic arthritis-associated uveitis

scientific article published on 16 October 2013

Pro-B acute lymphoblastic leukemia in a patient with severe congenital neutropenia: an unusual form of malignant evolution

scientific article published on 8 March 2013

Prognostic Impact of Serum Heavy/Light Chain Pairs in Patients With Monoclonal Gammopathy of Undetermined Significance and Smoldering Myeloma: Long-Term Results From a Single Institution

scientific article published on 27 February 2016

Prognostic Impact of Serum Immunoglobulin Heavy/Light Chain Ratio in Patients with Multiple Myeloma in Complete Remission after Autologous Stem Cell Transplantation

scientific article published on 16 March 2012

Prognostic impact of immunoparesis at diagnosis and after treatment onset in patients with light-chain amyloidosis.

scientific article

Pyogenic bacterial infections in humans with MyD88 deficiency

scientific article

Role of TNFRSF13B variants in patients with common variable immunodeficiency

scientific article published on 01 September 2009

Short-term efficacy of adalimumab in a patient with pyrin-associated autoinflammation with neutrophilic dermatosis.

scientific article

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 NLRP3 mosaicism in Muckle-Wells syndrome

scientific article published on 28 September 2015

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

scientific article published on 10 December 2013

Somatic NOD2 mosaicism in Blau syndrome

scientific article

Síndrome de Schnitzler: descripción de 3 casos

scientific article published on 05 March 2016

Síndrome periódico asociado al receptor del factor de necrosis tumoral

scientific article published on 01 February 2008

The Eurofever Registry for autoinflammatory diseases: results of the first 15 months of enrolment.

scientific article

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response

scientific article (publication date: August 2014)

The inflammasome pathway in stable COPD and acute exacerbations

scientific article

The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients.

scientific article published on 17 September 2014

The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus

scientific article published on April 2004

Type I leucocyte adhesion deficiency (LAD I). Report of a case.

scientific article

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA.

scientific article

[Post-renal transplantatation humoral acute rejection or anti-HLA antibodies-mediated acute rejection]

scientific article published on 01 January 2006

[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases].

scientific article published on December 2006

mTOR intersects antibody-inducing signals from TACI in marginal zone B cells

scientific article published on 13 November 2017

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