AUTHOR=Rutkowska-Zapała Magdalena , Szaflarska Anna , Kluczewska Anna , Ciȩciwa Julia , Plewka Jacek , Michalska Anna , Siedlar Maciej TITLE=Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure JOURNAL=Frontiers in Pediatrics VOLUME=10 YEAR=2022 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.858166 DOI=10.3389/fped.2022.858166 ISSN=2296-2360 ABSTRACT=

In this study, we report a 4-month-old boy with T−B+NK− severe combined immunodeficiency (SCID) due to a novel mutation in exon 2 of IL2RG, the gene encoding the interleukin (IL) common gamma chain (γc) of the cytokine receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21. The patient was born from a twin pregnancy. He manifested recurrent infections of the gastrointestinal tract, whereas his twin brother was asymptomatic with no immune defects. In order to evaluate the effect of this unreported variant on the protein structure, a structural modeling process was performed showing prominent biochemical alterations of the protein features, including molecular weight, isoelectric charge, and possible changes to its secondary and tertiary structure.