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

March 2021 in “ Research Square (Research Square) ”

Maria Siano, V. 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

alopecia psoriasis autoantibodies IgA CD8 T cells

TLDR Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.

The study investigated immune system dysfunction in 69 patients with RASopathies, revealing a higher prevalence of autoimmune disorders compared to controls. Notable findings included frequent upper respiratory infections, pneumonia, psoriasis, and alopecia in some patients. Significant immune abnormalities were observed, such as low IgA levels in 18.18% of patients and low CD8 T cells in 37.14%. Additionally, autoantibodies were present in a subset of patients. The study concluded that patients with RASopathies are at an increased risk of developing autoimmune disorders, recommending routine screening for autoimmunity in these patients.

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