Publicacions en col·laboració amb investigadors/es de Klinikum der Universität München (10)

2024

  1. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

    Journal of Allergy and Clinical Immunology, Vol. 153, Núm. 1, pp. 275-286.e18

  2. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

    Blood, Vol. 143, Núm. 24, pp. 2504-2516

2023

  1. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 4, pp. 984-996.e10

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

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

2019

  1. Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

    Clinical Immunology, Vol. 201, pp. 30-34

2018

  1. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders

    Journal of Allergy and Clinical Immunology, Vol. 141, Núm. 1, pp. 322-328.e10

2017

  1. A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis

    Journal of Allergy and Clinical Immunology, Vol. 139, Núm. 4, pp. 1302-1310.e4

2015

  1. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

    Journal of Clinical Immunology, Vol. 35, Núm. 2, pp. 189-198

2012

  1. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update

    Clinical and Experimental Immunology, Vol. 167, Núm. 1, pp. 108-119