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http://dx.doi.org/10.1590/1806-9282.2024S104 | DOI Listing |
Clin Exp Immunol
September 2025
Clinical Immunology Service, Institute of Immunology and Immunotherapy, University of Birmingham, B15 2TT.
Since its discovery in the late 18th Century, the role of vaccination in preventing death and disease has expanded across many infectious diseases and cancer. Key to our understanding of vaccine immunogenicity and efficacy is knowledge of the immune system itself. Inborn Errors of Immunity (IEI) represent a heterogeneous group of disorders characterised by impaired function of the immune system.
View Article and Find Full Text PDFFront Immunol
August 2025
Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Purpose: Inborn errors of immunity (IEIs) caused by mutations in are associated with a broad range of clinical manifestations, ranging from relatively mild to life-threatening. Our aim was to give a clinical and molecular description of a Norwegian cohort with STAT1-related disease.
Methods: This is a descriptive epidemiological study.
Front Genet
August 2025
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Background: The majority of monogenic inborn errors of immunity presenting as actinopathies were reported originally from the Middle East and North Africa (MENA) countries indicating a high prevalence of these entities in the region. However, their prognosis is unclear due to rarity and lack of comprehensive treatment outcomes.
Methods: We evaluated clinical, immunological, and genetic abnormalities associated with 15 genetic entities of actinopathies.
Neurol Sci
August 2025
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, leading to defective DNA repair, genomic instability, and immune surveillance dysfunction. Therefore, A-T patients are predisposed to cancers, particularly hematological malignancies like lymphoma and leukemia.
Methods: To identify the characteristics of A-T cases with multiple cancers, we searched the Iranian A-T registry with 324 cases and conducted a systematic literature search in PubMed and Embase using appropriate keywords.
Front Immunol
August 2025
Hemocentro UNICAMP, University of Campinas, Campinas, SP, Brazil.
Background: Wiskott-Aldrich Syndrome (WAS) is a rare and severe X-linked immunodeficiency disorder characterized by microthrombocytopenia, eczema, and increased susceptibility to infections, autoimmunity, and malignancies. This study aims to explore molecular changes in the WAS gene in Brazilian patients and assess their correlation with clinical manifestations and disease severity.
Methods: Thirty-one patients from 27 families with thrombocytopenia suspected to have WAS or X-linked thrombocytopenia (XLT) were analyzed.