Publications (162) Publications de LUIS IGNACIO GONZÁLEZ GRANADO

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. Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity

    Journal of Clinical Immunology, Vol. 44, Núm. 3

  3. 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

  4. 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

  5. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

    Human Genetics and Genomics Advances, Vol. 5, Núm. 3

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

    Science Immunology, Vol. 9, Núm. 91

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

    Actas Dermo-Sifiliograficas

  8. The complex nature of CXCR4 mutations in WHIM syndrome

    Frontiers in Immunology, Vol. 15

  9. 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

  10. 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

  2. Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex

    Journal of Clinical Immunology

  3. Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

    iScience, Vol. 26, Núm. 6

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

    Frontiers in Pediatrics

  5. Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children

    Journal of Clinical Immunology, Vol. 43, Núm. 6, pp. 1278-1288

  6. 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

  7. 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

  8. Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations

    Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 5, pp. 1391-1401.e7

  9. 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

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

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