Publicaciones en colaboración con investigadores/as de Karolinska University Hospital (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

  2. Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation

    Blood, Vol. 143, Núm. 10, pp. 872-881

2023

  1. Hepatic stellate cell activation markers are regulated by the vagus nerve in systemic inflammation

    Bioelectronic Medicine, Vol. 9, Núm. 1

  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

2021

  1. 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. 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

  3. Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

    Frontiers in Immunology, Vol. 11

2019

  1. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults

    Blood, Vol. 133, Núm. 23, pp. 2465-2477

2014

  1. Primary immune deficiencies - principles of care

    Frontiers in Immunology, Vol. 5, Núm. DEC

2013

  1. Erratum to Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): A survey of 45 patients. [Clin Exp Immunol 172, (2013) 63-72]

    Clinical and Experimental Immunology

  2. Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): A survey of 45 patients

    Clinical and Experimental Immunology, Vol. 172, Núm. 1, pp. 63-72

2012

  1. High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency

    PLoS Genetics, Vol. 8, Núm. 1

2010

  1. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

    Nature Genetics, Vol. 42, Núm. 9, pp. 777-782