Publikationen in Zusammenarbeit mit Forschern von Karolinska University Hospital (9)

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

2022

  1. Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

    Journal of Clinical Immunology, Vol. 42, Núm. 8, pp. 1748-1765

2020

  1. 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

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

    Frontiers in Immunology, Vol. 11

2016

  1. Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville

    Pediatric Allergy and Immunology, Vol. 27, Núm. 1, pp. 70-77

2015

  1. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: Implications for differential diagnosis and pathogenesis

    Haematologica, Vol. 100, Núm. 7, pp. 978-988

2014

  1. The PedPAD study: Boys predominate in the hypogammaglobulinaemia registry of the ESID online database

    Clinical and Experimental Immunology, Vol. 176, Núm. 3, pp. 387-393

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