Juan I Arostegui

Summary

Country: Spain

Publications

  1. doi request reprint Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency
    Angeles Ruiz Gomez
    Metabolic Diseases Unit, Pediatric Neurology Department, Hospital Universitario Son Dureta, Palma de Mallorca, Spain
    Pediatrics 129:e535-9. 2012
  2. doi request reprint 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 unde
    Juan I Arostegui
    Hospital Clinic, 08036 Barcelona, Spain
    Arthritis Rheum 62:1158-66. 2010
  3. doi request reprint [Hereditary systemic autoinflammatory diseases]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias, Servicio de Inmunologia, Hospital Clinic, Villarroel, Barcelona, Espana
    Reumatol Clin 7:45-50. 2011
  4. doi request reprint [Pathophysiological mechanisms underlying cryopyrin-associated periodic syndromes: genetic and molecular basis and the inflammasome]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias, Servicio de Inmunologia, Hospital Clinic de Barcelona, Barcelona, Espana
    Med Clin (Barc) 136:22-8. 2011
  5. ncbi request reprint [Hereditary systemic autoinflammatory diseases. Part II: cryopyrin-associated periodic syndromes, pediatric systemic granulomatosis and PAPA syndrome]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias Sistémicas, Servicio de Inmunologia, Centro de Diagnóstico Biomédico CDB, Hospital Clinic, Barcelona, Spain
    Med Clin (Barc) 130:429-38. 2008
  6. ncbi request reprint 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
    Juan I Arostegui
    Servicio de Inmunologia, Hospital Clinic, Barcelona, Spain
    Arthritis Rheum 56:3805-13. 2007
  7. ncbi request reprint [Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias Sistémicas, Servicio de Inmunologia, Centro de Diagnóstico Biomédico CDB, Hospital Clinic, Barcelona, Espana
    Med Clin (Barc) 129:267-77. 2007
  8. ncbi request reprint Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene
    Juan I Arostegui
    Hospital Clinic, Barcelona, Spain
    Arthritis Rheum 50:4045-50. 2004
  9. ncbi request reprint 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
    Anna Aldea
    Servei d Immunologia, Institut d Investigacions Biomèdiques Agustí Pi i Sunyer, Hospital Clinic, Barcelona, Catalonia, Spain
    Hum Mutat 23:399. 2004
  10. doi request reprint Differential humoral responses against heat-shock proteins after autologous stem cell transplantation in multiple myeloma
    Natalia Tovar
    Department of Hematology, Amyloidosis and Myeloma Unit, Hospital Clinic, Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, University of Barcelona, Barcelona, Spain
    Ann Hematol 93:107-11. 2014

Collaborators

Detail Information

Publications25

  1. doi request reprint Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency
    Angeles Ruiz Gomez
    Metabolic Diseases Unit, Pediatric Neurology Department, Hospital Universitario Son Dureta, Palma de Mallorca, Spain
    Pediatrics 129:e535-9. 2012
    ..This atypical presentation of MA suggests that it should be included in the differential diagnosis of unclassified patients with psychomotor retardation, failure to thrive or ataxia, even in the absence of febrile episodes...
  2. doi request reprint 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 unde
    Juan I Arostegui
    Hospital Clinic, 08036 Barcelona, Spain
    Arthritis Rheum 62:1158-66. 2010
    ..We undertook the current study to assess the presence of somatic, nongermline NLRP3 mutations in a sporadic case of CINCA/NOMID...
  3. doi request reprint [Hereditary systemic autoinflammatory diseases]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias, Servicio de Inmunologia, Hospital Clinic, Villarroel, Barcelona, Espana
    Reumatol Clin 7:45-50. 2011
    ..Herein, we will introduce the reader to an updated review of the main clinical, physiopathological and therapeutic features of the different hereditary systemic autoinflammatory diseases...
  4. doi request reprint [Pathophysiological mechanisms underlying cryopyrin-associated periodic syndromes: genetic and molecular basis and the inflammasome]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias, Servicio de Inmunologia, Hospital Clinic de Barcelona, Barcelona, Espana
    Med Clin (Barc) 136:22-8. 2011
    ....
  5. ncbi request reprint [Hereditary systemic autoinflammatory diseases. Part II: cryopyrin-associated periodic syndromes, pediatric systemic granulomatosis and PAPA syndrome]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias Sistémicas, Servicio de Inmunologia, Centro de Diagnóstico Biomédico CDB, Hospital Clinic, Barcelona, Spain
    Med Clin (Barc) 130:429-38. 2008
    ....
  6. ncbi request reprint 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
    Juan I Arostegui
    Servicio de Inmunologia, Hospital Clinic, Barcelona, Spain
    Arthritis Rheum 56:3805-13. 2007
    ....
  7. ncbi request reprint [Hereditary systemic autoinflammatory diseases. Hereditary periodic fever syndromes]
    Juan I Arostegui
    Unidad de Enfermedades Autoinflamatorias Sistémicas, Servicio de Inmunologia, Centro de Diagnóstico Biomédico CDB, Hospital Clinic, Barcelona, Espana
    Med Clin (Barc) 129:267-77. 2007
    ....
  8. ncbi request reprint Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene
    Juan I Arostegui
    Hospital Clinic, Barcelona, Spain
    Arthritis Rheum 50:4045-50. 2004
    ....
  9. ncbi request reprint 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
    Anna Aldea
    Servei d Immunologia, Institut d Investigacions Biomèdiques Agustí Pi i Sunyer, Hospital Clinic, Barcelona, Catalonia, Spain
    Hum Mutat 23:399. 2004
    ..On the contrary, the Chueta spectrum was poorer and closer to that of North African Jews, suggesting a direct connection with the Jewish diaspora...
  10. doi request reprint Differential humoral responses against heat-shock proteins after autologous stem cell transplantation in multiple myeloma
    Natalia Tovar
    Department of Hematology, Amyloidosis and Myeloma Unit, Hospital Clinic, Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, University of Barcelona, Barcelona, Spain
    Ann Hematol 93:107-11. 2014
    ..042). These results suggest, for first time, the potential of anti-HSP90 humoral immune response for long-term control of malignant plasma cell disorders...
  11. doi request reprint Prognostic impact of serum immunoglobulin heavy/light chain ratio in patients with multiple myeloma in complete remission after autologous stem cell transplantation
    Natalia Tovar
    Department of Hematology, Amyloidosis and Myeloma Unit, Hospital Clinic of Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer, University of Barcelona, Barcelona, Spain
    Biol Blood Marrow Transplant 18:1076-9. 2012
    ..Our results suggest that the HLC ratio is a surrogate marker of immune recovery after myeloablative transplantation, rather than as a marker of minimal residual disease...
  12. pmc 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
    Natalia Tovar
    Department of Hematology, Amyloidosis and Myeloma Unit, Hospital Clinic, Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, University of Barcelona, Barcelona, Spain
    Haematologica 98:1142-6. 2013
    ..008 and P=0.0001, respectively), likely reflecting the importance of a robust humoral immune response...
  13. ncbi request reprint Association of intermittent hydrarthrosis with MEFV gene mutations
    Juan D Canete
    Hospital Clinic, Barcelona, Spain
    Arthritis Rheum 54:2334-5. 2006
  14. ncbi request reprint 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
    Anna Aldea
    Servei d Immunologia, Institut Clínic d Infeccions i Immunologia ICII, C Villaroel 170, 08036 Barcelona, Spain
    Am J Med Genet A 124:67-73. 2004
    ....
  15. doi request reprint 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
    Laura Magnano
    Department of Hematology, Amyloidosis and Myeloma Unit, Hospital Clinic, Barcelona, and Institut d Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain
    Clin Lymphoma Myeloma Leuk 16:e71-7. 2016
    ..The aim of the present study was to investigate the prognostic effect of involved and uninvolved HLC pairs and HLC ratios on progression in a series of patients with MGUS and SMM...
  16. ncbi request reprint An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism
    Juan D Canete
    Institut d Investigacions Biomediques August Pi i Sunyer, and Servei de Reumatologia, Hospital Clinic de Barcelona, Villaroel 170, 08036 Barcelona, Spain
    Arthritis Rheum 56:2784-8. 2007
    ....
  17. ncbi request reprint 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
    Juan I Arostegui
    Servicio de Immunologia, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain
    Eur J Pediatr 164:13-6. 2005
    ..Thus it is debatable whether etanercept alone or combined with other drugs, is the treatment of choice for patients with tumour necrosis factor receptor-associated periodic syndrome...
  18. pmc 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
    Manuel Alvarez-Lobos
    Department of Gastroenterology, Hospital Clinic, Barcelona, Spain
    Ann Surg 242:693-700. 2005
    ..To study the predictive value of Nod2/CARD15 gene variants along with disease phenotypic characteristics for requirement of initial surgery and for surgical recurrence in Crohn's disease (CD)...
  19. doi request reprint Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism
    Anna Mensa-Vilaró
    Hospital Clinic de Barcelona, Barcelona, Spain
    Arthritis Rheumatol 68:3035-3041. 2016
    ..This study was undertaken to characterize the genetic cause underlying late-onset but otherwise typical CAPS...
  20. doi request reprint Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism
    Anna Mensa-Vilaró
    Hospital Clinic Institut d Investigacions Biomediques August Pi i Sunyer, Barcelona, Spain
    Arthritis Rheumatol 68:1039-44. 2016
    ..This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome...
  21. doi request reprint Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome
    Mercedes Serrano
    Department of Neurology, Hospital Sant Joan de Deu, University of Barcelona, 08950 Esplugues de Llobregat, Barcelona, Spain
    Pediatr Neurol 41:448-50. 2009
    ..The present case demonstrates the clinical utility of measurement of CSF neopterin levels in screening for these immune-mediated diseases, especially when neurologic symptoms are associated with normal results on routine CSF tests...
  22. doi request reprint DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes
    Roser Vento-Tormo
    Chromatin and Disease Group, Cancer Epigenetics and Biology Programme PEBC, Bellvitge Biomedical Research Institute IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
    J Allergy Clin Immunol . 2016
    ..However, variable penetrance among patients with the same gene mutations suggests involvement of additional mechanisms associated with inflammasome gene regulation...
  23. pmc Complement factor H binding of monomeric C-reactive protein downregulates proinflammatory activity and is impaired with at risk polymorphic CFH variants
    Blanca Molins
    Institut d Investigacions Biomèdiques Agustí Pi i Sunyer IDIBAPS, Hospital Clinic de Barcelona, 08028 Barcelona, Spain
    Sci Rep 6:22889. 2016
    ..FH from AMD patients carrying the "risk" His402 polymorphism displays impaired binding to mCRP, and therefore proinflammatory effects of mCRP remain unrestrained. ..
  24. ncbi request reprint 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
    Alex Soriano
    Institut Clinic d Infeccions i Immunologia, Hospital Clinic Universitari, Barcelona, Spain
    J Infect Dis 186:922-31. 2002
    ..EU subjects with sexual exposure to HIV-1, but not EU hemophiliacs, showed an underpresentation of SDF1-3'A allele frequency, which was coupled with high plasma SDF-1 levels and low CXCR4 expression...
  25. pmc Emergence of oligoclonal bands in patients with multiple myeloma in complete remission after induction chemotherapy: association with the use of novel agents
    Carlos Fernández de Larrea
    Departments of Hematology, Servei d Hematologia, Hospital Clinic de Barcelona, Villarroel 170, 08036 Barcelona, Spain
    Haematologica 96:171-3. 2011
    ..This difference could be due to a higher antitumor effect associated with the use of novel drugs, a stronger immune reconstitution, or both...