Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure

Magdalena Rutkowska-Zapała; Anna Szaflarska; Anna Kluczewska; Julia Ciȩciwa; Jacek Plewka; Anna Michalska; Maciej Siedlar

doi:10.3389/fped.2022.858166

Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure

Front Pediatr. 2022 Apr 15:10:858166. doi: 10.3389/fped.2022.858166. eCollection 2022.

Authors

Magdalena Rutkowska-Zapała¹, Anna Szaflarska¹, Anna Kluczewska¹, Julia Ciȩciwa², Jacek Plewka³, Anna Michalska², Maciej Siedlar¹

Affiliations

¹ Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College, Kraków, Poland.
² Department of Clinical Immunology, University Children Hospital, Krakow, Poland.
³ Malopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland.

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.

Keywords: X-linked severe combined immunodeficiency; dizygotic twins; interleukin 2 receptor gamma; novel genetic variant; protein structure.