Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (44)

2024

  1. An Exploratory Approach of Clinically Useful Biomarkers of Cvid by Logistic Regression

    Journal of Clinical Immunology, Vol. 44, Núm. 6

  2. Complement alternative pathway determines disease susceptibility and severity in antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis

    Kidney International, Vol. 105, Núm. 1, pp. 177-188

  3. 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

  4. Exploring gastric cancer genetics: A turning point in common variable immunodeficiency

    Journal of Allergy and Clinical Immunology: Global, Vol. 3, Núm. 2

  5. Inherited Human BCL10 Deficiencies

    Journal of Clinical Immunology, Vol. 44, Núm. 1

  6. Lack of Specific Immune Response after Five Doses of mRNA SARS-CoV-2 Vaccine in a Patient with CD4+ T-Cell Lymphopenia but Preserved Responses to CMV

    Vaccines, Vol. 12, Núm. 4

  7. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  8. Unveiling the value of C-reactive protein as a severity biomarker and the IL4/IL13 pathway as a therapeutic target in recessive dystrophic epidermolysis bullosa: A multiparametric cross-sectional study

    Experimental Dermatology, Vol. 33, Núm. 8

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa

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

  3. Inherited human ezrin deficiency impairs adaptive immunity

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

  4. 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

2022

  1. Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement

    Frontiers in Immunology, Vol. 13

  2. Combined Immune Defect in B-Cell Lymphoproliferative Disorders Is Associated with Severe Infection and Cancer Progression

    Biomedicines, Vol. 10, Núm. 8

  3. Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy

    Journal of the American Society of Nephrology : JASN, Vol. 33, Núm. 6, pp. 1137-1153

  4. Genomic crossroads between non-Hodgkin’s lymphoma and common variable immunodeficiency

    Frontiers in Immunology, Vol. 13

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

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

  6. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  7. Rapid, scalable assessment of SARS-CoV-2 cellular immunity by whole-blood PCR

    Nature Biotechnology, Vol. 40, Núm. 11, pp. 1680-1689

  8. Shorter telomere length is associated with COVID-19 hospitalization and with persistence of radiographic lung abnormalities

    Immunity and Ageing, Vol. 19, Núm. 1