Publications in collaboration with researchers from Howard Hughes Medical Institute (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

2023

  1. Inherited human ezrin deficiency impairs adaptive immunity

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 4, pp. 997-1009.e11

  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. 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. Clinical and Immunological Features of Human BCL10 Deficiency

    Frontiers in Immunology, Vol. 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

  2. Human BCL10 Deficiency due to Homozygosity for a Rare Allele

    Journal of Clinical Immunology, Vol. 40, Núm. 2, pp. 388-398

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

    Science, Vol. 370, Núm. 6515

2016

  1. Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent

    Clinical Immunology

  2. Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

    Clinical Immunology

2015

  1. Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

    Journal of Allergy and Clinical Immunology, Vol. 136, Núm. 5, pp. 1139-1149

2014

  1. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

    Journal of Clinical Investigation, Vol. 124, Núm. 12, pp. 5239-5248