Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity

    October 2021 in “ Orphanet journal of rare diseases ”
    Maria Siano, Valeria Marchetti, Stefano Pagano, Francesca Di Candia, Maria Alessio, Daniele De Brasi, Alessandro De Luca, Valentina Pinna, Simona Sestito, Daniela Concolino, Marco Tartaglia, Pietro Strisciuglio, Vittoria D’Esposito, Serena Cabaro, Giuseppe Perruolo, Pietro Formisano, Daniela Melis
    TLDR Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
    The study investigates the prevalence of autoimmune diseases in 69 patients with RASopathies, revealing significant immunological abnormalities compared to 50 controls. Key findings include frequent upper respiratory infections, low IgA levels in 18% of patients, low CD8 T cells in 37%, and the presence of autoantibodies in 25% of patients, with anti-Tg and anti-TPO antibodies being the most common. High levels of inflammatory cytokines were also noted. The study concludes that patients with RASopathies have a higher risk of developing autoimmune diseases and recommends routine screening for autoimmunity to enable timely medical interventions. Further research is needed to confirm these findings and understand the underlying mechanisms.
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