Rutkowska-Zapała Magdalena, Szaflarska Anna, Kluczewska Anna, Ciȩciwa Julia, Plewka Jacek, Michalska Anna, Siedlar Maciej
Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College, Kraków, Poland.
Department of Clinical Immunology, University Children Hospital, Krakow, Poland.
Front Pediatr. 2022 Apr 15;10:858166. doi: 10.3389/fped.2022.858166. eCollection 2022.
In this study, we report a 4-month-old boy with TBNK severe combined immunodeficiency (SCID) due to a novel mutation in exon 2 of , 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.
在本研究中，我们报告了一名4个月大的男孩，他因编码白细胞介素（IL）-2、IL-4、IL-7、IL-9、IL-15和IL-21细胞因子受体共同γ链（γc）的基因外显子2发生新突变，患有TBNK重症联合免疫缺陷（SCID）。该患者为双胎妊娠出生。他表现出反复的胃肠道感染，而他的双胞胎兄弟无症状且无免疫缺陷。为了评估这种未报道的变体对蛋白质结构的影响，我们进行了结构建模过程，结果显示该蛋白质特征存在显著的生化改变，包括分子量、等电点以及其二、三级结构可能发生的变化。
