Publicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (19)

2024

  1. Erratum: Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome medicine (2023) 15 1 (22))

    Genome medicine

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

    Immunology, Vol. 172, Núm. 3, pp. 440-450

2021

  1. Clinical and Immunological Features of Human BCL10 Deficiency

    Frontiers in Immunology, Vol. 12

  2. Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome

    Frontiers in Immunology, Vol. 12

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

    Frontiers in Immunology, Vol. 12

  4. Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature

    Clinical Immunology, Vol. 230

  5. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

    Science immunology, Vol. 6, Núm. 62

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. 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

  3. 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

  4. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

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. 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

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

2013

  1. Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression

    BMC Immunology, Vol. 14, Núm. 1

2008

  1. Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient

    Molecular Immunology