Publicaciones en colaboración con investigadores/as de National Institute of Allergy and Infectious Diseases (14)

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. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

    Human Genetics and Genomics Advances, Vol. 5, Núm. 3

2023

  1. 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

  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

  3. TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 3, pp. 736-747

  4. Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

    Science immunology, Vol. 8, Núm. 90, pp. eabp8966

2022

  1. Human genetic and immunological determinants of critical COVID-19 pneumonia

    Nature, Vol. 603, Núm. 7902, pp. 587-598

2021

  1. 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. 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

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

    Science, Vol. 370, Núm. 6515

2019

  1. Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

    Clinical Immunology, Vol. 201, pp. 30-34

2018

  1. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment

    Journal of Allergy and Clinical Immunology, Vol. 142, Núm. 2, pp. 605-617.e7

  2. Patients with CD3G mutations reveal a role for human CD3g in Treg diversity and suppressive function

    Blood, Vol. 131, Núm. 21, pp. 2335-2344