Publicacions en col·laboració amb investigadors/es de University Medical Center Freiburg (17)

2024

  1. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

    Journal of Allergy and Clinical Immunology, Vol. 153, Núm. 1, pp. 275-286.e18

  2. Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells

    Science Immunology, Vol. 9, Núm. 91

2023

  1. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 4, pp. 984-996.e10

  2. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

    Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 4, pp. 1081-1095

  3. Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations

    Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 5, pp. 1391-1401.e7

2022

  1. Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

    Journal of Clinical Immunology, Vol. 42, Núm. 8, pp. 1748-1765

2021

  1. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

    Journal of Allergy and Clinical Immunology, Vol. 148, Núm. 5, pp. 1332-1341.e5

2020

  1. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

    Journal of Allergy and Clinical Immunology, Vol. 146, Núm. 4, pp. 901-911

2019

  1. Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group (Journal of Clinical Immunology, (2019), 39, 1, (45-54), 10.1007/s10875-018-0577-9)

    Journal of Clinical Immunology

  2. Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

    Journal of Clinical Immunology, Vol. 39, Núm. 1, pp. 45-54

2017

  1. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

    Journal of Allergy and Clinical Immunology, Vol. 139, Núm. 4, pp. 1282-1292

2015

  1. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

    Journal of Clinical Immunology, Vol. 35, Núm. 2, pp. 189-198

  2. Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe

    Journal of Clinical Immunology, Vol. 35, Núm. 2, pp. 199-205

  3. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: Implications for differential diagnosis and pathogenesis

    Haematologica, Vol. 100, Núm. 7, pp. 978-988

2013

  1. Erratum to Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): A survey of 45 patients. [Clin Exp Immunol 172, (2013) 63-72]

    Clinical and Experimental Immunology

  2. Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): A survey of 45 patients

    Clinical and Experimental Immunology, Vol. 172, Núm. 1, pp. 63-72

2012

  1. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update

    Clinical and Experimental Immunology, Vol. 167, Núm. 1, pp. 108-119