case_images: PMC6477099_01
case_images: Lymphocyte subset counts and viral copy numbers over 4 years. An increase of T and B cell counts has been observed in the last 2.5 years coincidently with cytomegalovirus (CMV) and Epstein-Barr virus (EBV) viremia, and herpes simplex virus (HSV) stomatitis as shown by polymerase chain reaction. Anti-interferon-alpha antibodies (anti-IFN-alpha) were present at 14 years of age.
case_images: fped-07-00122-g0001.jpg
case_images: PMC6477099_01_fped-07-00122-g0001.jpg
case_images: F1
case_images: Persistently, Epstein-Barr virus (EBV) and intermittently, cytomegalovirus (CMV) viral loads were detected without obvious clinical manifestations of lymphoproliferation or acute viral distress since 11.8 years for EBV and 13.4 years of age for CMV (Figure 1). T cells, B cells (CD19+) and natural killer (NK) cells (CD16+CD56+) was noticed in the same period (Figure 1). Testing at 14 years of age revealed the presence of antibodies targeting interferon-alpha (anti-IFN-alpha) (Figure 1).
case_images: Recombination activity of two heterozygous RAG2 pathogenic variants (E170G, Y227fs) alone and in combination relative to the wild type allele (wtRAG2). -RAG2 is a negative control.
case_images: fped-07-00122-g0002.jpg
case_images: PMC6477099_01_fped-07-00122-g0002.jpg
case_images: F2
case_images: The relative recombinase activity level of the protein expressed by RAG2 p.E170G variant was 14.2% +- 1.6 standard error of mean (SEM) whereas the p.Y227fs variant had zero activity and their combined activity was 16.2% +- 2.5 SEM in an in vitro system (Figure 2).