J. Aróstegui

M. Juan, J. Yagüe, Erik Alonso González, 2022, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

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

I. Caragol, J. Rodríguez-Sánchez, J. Ordi, 2001, The Journal of clinical investigation.

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

S. Serrano, J. Lloreta, J. Casanova, 2016 .

Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

J. Yagüe, F. Casals, P. Pelegrín, 2022, Journal of Clinical Immunology.

Clues to management of neonatally diagnosed BTK deficiency

M. Juan, J. Yagüe, J. Aróstegui, 2016, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

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 leucocyte antigen‐identical sibling donor transplanta

A. Grañena, J. Sierra, C. Solano, 2001, British journal of haematology.

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

J. Yagüe, T. Díaz, J. Bladé, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Prognostic impact of serum immunoglobulin heavy/light chain ratio in patients with multiple myeloma in complete remission after autologous stem cell transplantation.

J. Yagüe, J. Bladé, J. Aróstegui, 2012, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Excess Serum Interleukin‐18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1

D. Kastner, C. Gabay, D. Stone, 2021, medRxiv.

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

D. Foell, E. Hoppenreijs, S. Holland, 2015, The Journal of allergy and clinical immunology.

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

J. Yagüe, G. Espinosa, R. Cervera, 2016, Autoimmunity reviews.

IL‐12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

J. Casanova, I. Tezcan, M. Martínez-Gallo, 2013, Human mutation.

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

M. Juan, R. Faner, R. Colobran, 2009, Genes and Immunity.

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

R. Kaneva, M. Juan, P. Majumder, 2011, European Journal of Human Genetics.

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Douglas R. McDonald, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Inherited biallelic CSF3R mutations in severe congenital neutropenia.

A. Schäffer, E. Gertz, J. Yagüe, 2014, Blood.

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

J. Aróstegui, I. Badell, M. Martín-Mateos, 2012, Allergologia et immunopathologia.

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.

C. Prins, P. Soler-Palacín, R. Trembath, 2015, The Journal of allergy and clinical immunology.

MCC950 closes the active conformation of NLRP3 to an inactive state

Horacio Pérez-Sánchez, H. Pérez‐Sánchez, H. Martínez-Banaclocha, 2019, Nature Chemical Biology.

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

E. Montserrat, M. Juan, J. Yagüe, 2008, Blood.

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

E. Carreño, A. Ramanan, J. Aróstegui, 2014, Acta ophthalmologica.

Genetic Aspects of Investigating and Understanding Autoinflammation

I. Ceccherini, J. Aróstegui, M. Rusmini, 2019, Textbook of Autoinflammation.

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

J. Lloreta, M. Pybus, M. Juan, 2017, Nature Communications.

Correction: Corrigendum: B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

S. Serrano, J. Lloreta, J. Casanova, 2014, Nature Immunology.

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

T. Marquès-Bonet, F. Casals, Núria Bonet, 2021, Scientific Reports.

Assessing the digenic model in rare disorders using population sequencing data

A. Need, C. Tregidgo, P. Furió-Tarí, 2022, European Journal of Human Genetics.

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

Y. Sharabi, G. Rechavi, J. Aróstegui, 2015, Orphanet Journal of Rare Diseases.

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

A. Giménez-Arnau, J. Aróstegui, R. Pujol, 2019, Acta dermato-venereologica.

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

M. Swertz, I. Touitou, F. Milhavet, 2018, Journal of Medical Genetics.

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 mechanism underlying mendelian inherited diseases.

M. Aymerich, M. Juan, J. Yagüe, 2010, Arthritis and rheumatism.

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

G. Hitman, J. Yagüe, K. Minden, 2003, Arthritis and rheumatism.

An International registry on Autoinflammatory diseases: the Eurofever experience

C. Wouters, I. Touitou, P. Woo, 2012, Annals of the rheumatic diseases.

Role of TNFRSF13B variants in patients with common variable immunodeficiency.

J. Yagüe, P. Soler-Palacín, J. Aróstegui, 2009, Blood.

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

M. Juan, B. Gel, M. Monzó, 2013 .

Common variants in NLRP 2 and NLRP 3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation

E. Montserrat, M. Juan, J. Yagüe, 2008 .

Serum monoclonal component in chronic lymphocytic leukemia: baseline correlations and prognostic impact

E. Giné, A. López-Guillermo, E. Campo, 2020, Haematologica.

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

M. Rozman, J. Yagüe, T. Díaz, 2018, Leukemia.

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

E. Ballestar, M. Juan, J. Yagüe, 2017, The Journal of allergy and clinical immunology.

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

J. Yagüe, J. Aróstegui, S. Plaza, 2004, Arthritis and rheumatism.

Genomic typing of minor histocompatibility antigen HA-1 by reference strand mediated conformation analysis (RSCA).

A. Grañena, S. Querol, J. Aróstegui, 2000, Tissue Antigens.

Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

N. Klein, P. Hawkins, J. Aróstegui, 2013, Arthritis & rheumatology.

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

J. Molinuevo, J. Yagüe, L. Rami, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Multiple myeloma in serologic complete remission after autologous stem cell transplantation: impact of bone marrow plasma cell assessment by conventional morphology on disease progression.

M. Rozman, J. Yagüe, J. Bladé, 2011, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Baseline correlations and prognostic impact of serum monoclonal proteins in follicular lymphoma

E. Giné, A. López-Guillermo, E. Campo, 2020, British journal of haematology.

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

J. Yagüe, J. Bladé, J. Aróstegui, 2011, Haematologica.

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.

J. Yagüe, J. Bladé, J. Aróstegui, 2009, Blood.

Response: Free light chain assay and stringent complete remission in multiple myeloma: more questions than answers

J. Yagüe, J. Bladé, J. Aróstegui, 2010 .

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

P. Baker, I. Wicks, S. Masters, 2017, Annals of the rheumatic diseases.

Familial Mediterranean fever in the pediatric population.

J. Aróstegui, P. Llobet-Agulló, Maria Teresa Coll-Sibina, 2022, Allergologia et immunopathologia.

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 periodic inflammatory disorder?

J. Yagüe, J. Campistol, J. Aróstegui, 2004, American journal of medical genetics. Part A.

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

J. Yagüe, J. Aróstegui, A. Borzutzky, 2012, Clinical Rheumatology.

[Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes].

J. Yagüe, J. Aróstegui, 2007, Medicina clinica.

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

J. Yagüe, C. Benítez, M. Oyarzo, 2006, Revista medica de Chile.

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

J. Yagüe, J. Aróstegui, S. Plaza, 2005, European Journal of Pediatrics.

[Hereditary systemic autoinflammatory diseases].

J. Aróstegui, 2011, Reumatologia clinica.

FRI0001 NEXT GENERATION SEQUENCING ANALYSIS OF AN NLRP3 MUTATION NEGATIVE CAPS COHORT

N. Klein, J. Aróstegui, P. Brogan, 2019, Poster Presentations.

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

J. Aróstegui, E. González-Roca, C. Ortega, 2013, Pediatric blood & cancer.

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome

A. Webster, M. Westcott, J. Aróstegui, 2021, Ophthalmic genetics.

Multiple sclerosis in a patient with cryopyrin-associated autoinflammatory syndrome: Evidence that autoinflammation is the common link.

J. Aróstegui, P. Skendros, K. Ritis, 2021, Clinical immunology.

Newly Described Autoinflammatory Diseases in Pediatric Dermatology

J. Aróstegui, A. Torrelo, S. Hernández-Ostiz, 2016, Pediatric dermatology.

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

J. Yagüe, T. Díaz, J. Bladé, 2017, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

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

O. Ohara, J. Yagüe, H. Takada, 2011, Arthritis and rheumatism.

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

J. Yagüe, A. Dick, A. Adán, 2016, Scientific Reports.

Effective ex vivo inhibition of Cryopyrin-Associated Periodic Syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3.

P. Pelegrín, A. Weber, J. Aróstegui, 2022, Rheumatology.

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

J. Aróstegui, M. Brito, M. Conde, 2014, Gene.

Clinical, Genetic, and Therapeutic Diversity in 2 Patients With Severe Mevalonate Kinase Deficiency

J. Yagüe, A. Ribes, M. Couce, 2012, Pediatrics.

Excellent response to secukinumab in an infant with severe generalized pustular psoriasis

J. Aróstegui, S. Bernal, C. López-Sánchez, 2021, The Journal of dermatology.

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

J. Aróstegui, D. Menis, V. Gargallo, 2018, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

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

J. Aróstegui, A. Olivé, E. González-Roca, 2014, The Journal of Rheumatology.

[Schnitzler syndrome: Report of 3 cases].

J. Aróstegui, C. Fernández de Larrea, L. Rodríguez-Lobato, 2016, Medicina clinica.

G-CSF drives autoinflammation in APLAID

Ashley P Ng, P. Baker, A. Garnham, 2023, Nature Immunology.

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

S. Serrano, J. Lloreta, M. Pybus, 2017, Nature Communications.

First Description of Late‐Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism

J. Yagüe, F. Casals, P. Pelegrín, 2021, Arthritis & rheumatology.

Characterization and Prognostic Impact of Oligoclonal Humoral Response in Patients with Multiple Myeloma After Autologous Stem-Cell Transplantation: Long-Term Results From a Single Institution

J. Yagüe, J. Bladé, J. Aróstegui, 2012 .

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.

J. Cañete, R. Queiró, J. Aróstegui, 2008, Seminars in arthritis and rheumatism.

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

F. Romero, G. Herrero-Beaumont, O. Sanchez-Pernaute, 2014, Rheumatology.

Effect of NOD 2 / CARD 15 variants in T-cell depleted allogeneic stem cell transplantation

A. Navarro, M. Monzó, A. Gaya, 2006 .

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

E. Montserrat, J. Yagüe, A. Navarro, 2006, Haematologica.

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

J. Yagüe, J. Aróstegui, E. Ruíz-Ortiz, 2017, Clinical and experimental rheumatology.

Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant

C. Niemeyer, J. Aróstegui, L. Alsina, 2022, Journal of Neuroimmunology.

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

R. Ravazzolo, R. Consolini, M. Severino, 2017, The Journal of Rheumatology.

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

S. Ozen, T. Heike, J. Aróstegui, 2016, Clinical and experimental rheumatology.

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

M. Swertz, M. Koudijs, J. K. Ploos van Amstel, 2019, The Journal of molecular diagnostics : JMD.

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

P. Hawkins, J. Aróstegui, T. Lane, 2016, Arthritis & rheumatology.

Palindromic rheumatism: Evidence of four subtypes of palindromic-like arthritis based in either MEFV or RF/ACPA status.

J. Cañete, R. Sanmartí, J. Aróstegui, 2021, Joint Bone Spine.

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

J. Yagüe, J. Aróstegui, E. Ruíz-Ortiz, 2013, Annals of the rheumatic diseases.

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

J. Yagüe, J. Aróstegui, I. Dursun, 2008, Rheumatology International.

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

J. Yagüe, J. Aróstegui, E. Ramos, 2005, Rheumatology.

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

J. Aróstegui, J. Mascaró, R. Castellanos-Moreira, 2018, The Australasian journal of dermatology.

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Douglas R. McDonald, A. Al-ghonaium, Sami Al-Hajjar, 2010 .

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

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

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

J. Zarranz, J. Aróstegui, A. Cánovas, 2016, Neurologia.

Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome

J. Bertin, C. Wouters, A. Dick, 2017 .

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism

M. López-Guerra, M. Rozman, J. Yagüe, 2023, Annals of the Rheumatic Diseases.

Atypical memory B cells form a pre-plasmacellular reservoir for steady-state IgD responses to common nasopharyngeal antigens

Andrei Slabodkin, V. Greiff, S. Mehandru, 2023, bioRxiv.

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Douglas R. McDonald, A. Al-ghonaium, Sami Al-Hajjar, 2010, Medicine.

Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome.

J. Aróstegui, Juan I. Aróstegui, J. Hernández-Rodríguez, 2022, Medicina clinica.

[Consensus Document on the differential diagnosis and therapeutic approach to recurrent fever by the Paediatric Infectology Society and the Paediatric Rheumatology Society].

P. Soler-Palacín, A. Martín-Nalda, J. Aróstegui, 2011, Anales de pediatria.

Clinical and epidemiological research

C. Wouters, I. Touitou, P. Woo, 2011 .

Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist

Núria Bonet, J. Aróstegui, S. Plaza, 2024, Frontiers in immunology.

Inherited biallelic CSF3R mutations in severe congenital neutropenia.

A. Schäffer, E. Gertz, J. Yagüe, 2014, Blood.

Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications

I. Alobid, J. Aróstegui, I. Figueras-Nart, 2024, Autoimmunity Reviews.