Use of Benralizumab in Refractory Eosinophilic Cystitis Improves Symptoms and Reduces Bladder Eosinophils

Abstract

Data gathered included patient demographics, past medical and family history, specialty of ordering provider, inpatient or outpatient setting, PIDD panel results, genetic counseling, and changes to treatment. RESULTS: Of the 97 patients that had the panel performed, 72% were ordered in the outpatient setting. The most common ordering specialties were Immunology (36%), Rheumatology (22%), Hematology/ Immunology/Rheumatology multidisciplinary clinic (19%), and Hematology (11%). 31 pathogenic variants, 16 increased-risk variants, and 219 variants of uncertain significance (VUS) were discovered. Sixteen patients had clinically significant mutations, eight patients had a diagnosis established, and two patients required bone marrow transplant (ICF syndrome; hypomorphic RAG1 SCID). Twenty-five patients required further functional or genetic testing. Eight patients had negative panels. CONCLUSIONS: In this study of patients who had a PIDD gene panel as part of their work-up, 8% of patients had a diagnosis established, 16% had clinically significant variants identified, and 26% required further functional or genetic testing. Two patients underwent a bone marrow transplant based on the diagnosis. Genetic testing for PIDDs has the potential to alter treatment options, provide prognostic information, and change counseling recommendations.