Publicaciones en colaboración con investigadores/as de Necker-Enfants Malades Hospital (15)

2024

  1. The immunopathological landscape of human pre-TCRa deficiency: From rare to common variants

    Science, Vol. 383, Núm. 6686

2023

  1. 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

  2. The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022)

    Frontiers in Immunology, Vol. 14

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

  2. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

    Journal of Allergy and Clinical Immunology, Vol. 148, Núm. 5, pp. 1332-1341.e5

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

2019

  1. Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency

    Journal of Allergy and Clinical Immunology, Vol. 143, Núm. 5, pp. 1931-1934.e1

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

  2. Primary immune deficiencies - principles of care

    Frontiers in Immunology, Vol. 5, Núm. DEC

2013

  1. C3 glomerulopathy: Consensus report

    Kidney International