Publicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (19)

2023

  1. Clinical manifestations and approach to the management of patients with common variable immunodeficiency and liver disease

    Frontiers in Immunology, Vol. 14

  2. Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa

    British Journal of Dermatology, Vol. 189, Núm. 6, pp. 774-776

2021

  1. Clinical and Immunological Features of Human BCL10 Deficiency

    Frontiers in Immunology, Vol. 12

  2. 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

  3. Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome

    Frontiers in Immunology, Vol. 12

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

    Enfermedades Infecciosas y Microbiologia Clinica, Vol. 38, Núm. 9, pp. 438-443

  3. Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 8, Núm. 10, pp. 3342-3347

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

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

  5. 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

2017

  1. Close Encounters of the First Kind: Innate Sensors and Multiple Sclerosis

    Molecular Neurobiology, Vol. 54, Núm. 1, pp. 101-114

  2. Multimarker risk stratification approach at multiple sclerosis onset

    Clinical Immunology, Vol. 181, pp. 43-50

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

  3. Multicenter study for the evaluation of the antibody response against salmonella typhi Vi vaccination (EMPATHY) for the diagnosis of Anti-polysaccharide antibody production deficiency in patients with primary immunodeficiency

    Clinical Immunology, Vol. 169, pp. 80-84

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. Extending the clinical horizons of mucosal bacterial vaccines: Current evidence and future prospects

    Current Drug Targets, Vol. 15, Núm. 12, pp. 1132-1143

  2. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

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