Summary
Primary immunodeficiencies, or inborn errors of immunity (IEIs), are a group of inherited disorders affecting the immune system. Identifying the genetic etiology of an IEI can impact patient management. Here, we present findings from a retrospective review of genetic testing reports from 4,894 patients who underwent 1 of 11 immunology-related panel tests at Blueprint Genetics for an indication of suspected IEI. Both sequence and copy number variation (CNV) analysis was performed and select disease-associated noncoding regions were specifically targeted. Key findings included
- The positive rate of genetic testing varied by panel and age at testing
- Patients under age 1 had the highest rate of positive findings (25%)
- 7% of positive findings in this cohort were small (<4 exon) CNVs and noncoding variants
The use of multigene panels, including detection of small CNVs and noncoding variants, can result in detection of a genetic etiology in the IEI population.
Authors:
Kimberly Gall, Zöe Powis, Mari-Liis Lukke, Julie Hathaway, Alicia Scocchia, Christèle du Souich, Elina Hirvonen, Päivi Kokkonen, Inka Saarinen, Matias Rantanen, Pertteli Salmenperä, Massimiliano Gentile, Jennifer Schleit, Lotta Koskinen, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo