Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (123)

2024

  1. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

    Clinical chemistry, Vol. 70, Núm. 5, pp. 737-746

  2. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

    The Journal of experimental medicine, Vol. 221, Núm. 2

  3. 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

  4. Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells

    Science Immunology, Vol. 9, Núm. 91

  5. Pseudo-catatonia and Acral Degos-like Lesions: An Atypical Form of the Aicardi–Goutières Syndrome

    Actas Dermo-Sifiliograficas

  6. The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function

    Immunology, Vol. 172, Núm. 3, pp. 440-450

2023

  1. Editorial: Primary immune regulatory disorders: Coming of age

    Frontiers in Pediatrics

  2. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

    Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 4, pp. 1081-1095

  3. 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

  4. Scalable GMP-compliant gene correction of CD4+ T cells with IDLV template functionally validated in vitro and in vivo

    Molecular Therapy - Methods and Clinical Development, Vol. 30, pp. 546-557

  5. TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 3, pp. 736-747

2022

  1. A Multi‑Center, Open‑Label, Single‑Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency

    Journal of Clinical Immunology, Vol. 42, Núm. 3, pp. 500-511

  2. Autoantibodies against type I IFNs in patients with critical influenza pneumonia

    The Journal of experimental medicine, Vol. 219, Núm. 11

  3. Case report: Novel treatment regimen for enterovirus encephalitis in SCID

    Frontiers in Immunology, Vol. 13

  4. Cost-minimization analysis of immunoglobulin treatment of primary immunodeficiency diseases in Spain

    European Journal of Health Economics, Vol. 23, Núm. 3, pp. 551-558

  5. 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

  6. Eczematous dermatitis and thrombocytopenia in a 10-month-old boy

    JEADV Clinical Practice, Vol. 1, Núm. 1, pp. 62-65

  7. IgA deficiency and autoimmune comorbidities in juvenile idiopathic arthritis

    Anales de Pediatria, Vol. 97, Núm. 3, pp. 172-178

  8. Pediatric Chagas disease in the non-endemic area of Madrid: A fifteen-year review (2004–2018)

    PLoS Neglected Tropical Diseases, Vol. 16, Núm. 2

  9. Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation

    Journal of Autoimmunity, Vol. 132