Summary
Identifying the genetic etiology for patients with inborn errors of immunity (IEI) significantly impacts patient management but can be challenging if the PID overlaps with hematological disorders like cytopenia and bone marrow failure. We developed a multigene panel test, the Comprehensive Immune Cytopenia (CIC) Panel, to address this need and compared the results from this test to those from the Primary Immunodeficiency Panel (PID) during the same period. Overall, we reviewed clinical reports from 1,243 consecutive patients with an indication of suspected IEI who underwent a CIC Panel or the PID Panel at Blueprint Genetics.
While both panels had a similar rate of positive results, the most frequent genes in which positive results were identified are panel specific. Copy number variants, noncoding variants, and variants in difficult-to-sequence genes were identified as important contributors to the positive rate of these panels, highlighting the value of robust methodology needed to detect these variant types for this patient population.
Authors:
Zöe Powis, Kimberly Gall, Julie Hathaway, Alicia Scocchia, Elina Hirvonen, Päivi Kokkonen, Inka Saarinen, Matias Rantanen, Pertteli Salmenperä, Massimiliano Gentile, Jennifer Schleit, Lotta Koskinen, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo