Publicacions en col·laboració amb investigadors/es de Instituto de Salud Carlos III (5)

2023

  1. Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy

    Journal of Clinical Immunology, Vol. 43, Núm. 1, pp. 165-180

2021

  1. Longitudinal dynamics of SARS-CoV-2-specific cellular and humoral immunity after natural infection or BNT162b2 vaccination

    PLoS Pathogens, Vol. 17, Núm. 12

  2. 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

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