Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (18)

2024

  1. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

    Clinical chemistry, Vol. 70, Núm. 5, pp. 737-746

  2. 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

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. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2022

  1. Cost-minimization analysis of immunoglobulin treatment of primary immunodeficiency diseases in Spain

    European Journal of Health Economics, Vol. 23, Núm. 3, pp. 551-558

2020

  1. Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

    Enfermedades Infecciosas y Microbiologia Clinica, Vol. 38, Núm. 9, pp. 438-443

  2. Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 8, Núm. 10, pp. 3342-3347

2019

  1. Primary and secondary immunodeficiency diseases in oncohaematology: Warning signs, diagnosis, and management

    Frontiers in Immunology, Vol. 10, Núm. MAR

  2. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

    Journal of Allergy and Clinical Immunology, Vol. 143, Núm. 1, pp. 359-368

2018

  1. Meningococcal b vaccine immunogenicity in children with defects in complement and splenic function

    Pediatrics, Vol. 142, Núm. 3

  2. Primary immunodeficiency diseases in lung disease: Warning signs, diagnosis and management

    Respiratory Research, Vol. 19, Núm. 1

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

2016

  1. Multicenter study for the evaluation of the antibody response against salmonella typhi Vi vaccination (EMPATHY) for the diagnosis of Anti-polysaccharide antibody production deficiency in patients with primary immunodeficiency

    Clinical Immunology, Vol. 169, pp. 80-84

2015

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

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

2014

  1. The PedPAD study: Boys predominate in the hypogammaglobulinaemia registry of the ESID online database

    Clinical and Experimental Immunology, Vol. 176, Núm. 3, pp. 387-393

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