Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario La Paz (15)

2024

  1. The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function

    Immunology

2022

  1. Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity

    European Journal of Pediatrics, Vol. 181, Núm. 11, pp. 3889-3898

  2. Pediatric Chagas disease in the non-endemic area of Madrid: A fifteen-year review (2004–2018)

    PLoS Neglected Tropical Diseases, Vol. 16, Núm. 2

2021

  1. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

    Journal of Allergy and Clinical Immunology, Vol. 147, Núm. 2, pp. 520-531

  2. Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

    Frontiers in Immunology, Vol. 12

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. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

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

    Frontiers in Immunology, Vol. 10, Núm. MAR

  3. 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. The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency

    European Journal of Medical Genetics, Vol. 61, Núm. 7, pp. 393-398

2017

  1. Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 5, Núm. 4, pp. 1146-1148

2016

  1. A case of IL-7R deficiency caused by a novel synonymous mutation and implications for mutation screening in SCID diagnosis

    Frontiers in Immunology, Vol. 7, Núm. OCT

  2. 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. Presentation of severe combined immunodeficiency with respiratory syncytial virus and pneumocystis co-infection

    Pediatric Infectious Disease Journal