Publicaciones en colaboración con investigadores/as de National Institute of Allergy and Infectious Diseases (11)

2024

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

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

2023

  1. Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

    iScience, Vol. 26, Núm. 6

  2. 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

  3. 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

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

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

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

2020

  1. 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

2019

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

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

2018

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

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

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

2015

  1. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

    Journal of Clinical Immunology, Vol. 35, Núm. 2, pp. 189-198