Publicacions en què col·labora amb LUIS MIGUEL ALLENDE MARTÍNEZ (39)

2024

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

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

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

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

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

    Science Immunology, Vol. 9, Núm. 91

  4. 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. 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

  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. 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. Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Núm. 21

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

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

2021

  1. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

    Journal of Allergy and Clinical Immunology, Vol. 148, Núm. 5, pp. 1332-1341.e5

  2. Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

    Frontiers in Immunology, Vol. 12

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. Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 8, Núm. 10, pp. 3342-3347

  3. Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

    Enfermedades Infecciosas y Microbiologia Clinica, Vol. 38, Núm. 9, pp. 438-443

  4. Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2)

    Stem Cell Research, Vol. 49

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

    Frontiers in Immunology, Vol. 11

2019

  1. Acquired and innate immunity impairment and severe disseminated Mycobacterium genavense infection in a patient with a NF-κB1 deficiency

    Frontiers in Immunology, Vol. 10, Núm. JAN

  2. Extreme phenotypes with identical mutations: Two patients with same non-sense NHEJ1 homozygous mutation

    Frontiers in Immunology, Vol. 10, Núm. JAN

  3. Fatal pneumocystis jirovecii and cytomegalovirus infections in an infant with normal trecs count: Pitfalls of newborn screening for severe combined immunodeficiency

    Pediatric Infectious Disease Journal, Vol. 38, Núm. 2, pp. 157-160