Scientists from IFB: MSc Aleksandra Urban (first author), MSc Anna Felberg, PhD Grzegorz Stasiłojć, PhD Marcin Okrój (corresponding author) from Department of Cell Biology and Immunology and MSc Marcel Thiel and PhD Stanisław Ołdziej from Laboratory of Biopolymers Structure published their results in the Journal of Allergy and Clinical Immunology (JACI)!
JACI is ranked #1 in “allergy” and #6 in “immunology” category according to Web of Science and its impact factor is 14.1!
The publication entitled „Gain-of-function mutation in complement C2 protein identified in patient with aHUS” (10.1016/j.jaci.2020.02.014) involves etiology of ultra-rare kidney disease, atypical hemolytic uremic syndrome (aHUS). So far standard diagnostics was focused on abnormalities in the alternative complement pathway. Aleksandra Urban and colleagues revealed that mutations in the classical complement pathway may also play a role in disease’s etiology. Existence of such mutations was not known before and as such opens up new therapeutic possibilities alternate for Soliris (eculizumab), which is one of the most expensive drugs on the market with yearly cost of approx. 2 mln PLN per single patient.
Urban Aleksandra, Volokhina Elena, Felberg Anna, Stasiłojć Grzegorz, Blom Anna M., Jongerius Ilse, van den Heuvel Lambertus, Thiel Marcel, Ołdziej Stanisław, Arjona Emilia, Rodriguez de Córdoba Santiago, Okrój Marcin. Gain-of-function mutation in complement C2 protein identified in patient with Ahus. Journal of Allergy and Clinical Immunology 2020, (in press) (doi: 10.1016/j.jaci.2020.02.014)