IKBKB 缺陷导致 SCID
中文名称
通路描述
IKBKB 缺陷导致 SCID 四例早期发病、危及生命的微生物感染和生长发育迟缓患者被发现携带 IKBKB 基因第 13 外显子 1292 位 G 碱基二倍体重复，导致 IKBKB 表达缺失。IKBKB 缺陷与严重联合免疫缺陷（SCID）相关，这是一种以低水平免疫球蛋白（低免疫球蛋白血症）为特征的疾病。进一步表型评估显示，外周血 B 细胞和 T 细胞计数正常，但几乎全部为无反应表型。调节性 T 细胞和γδ T 细胞缺失。
英文描述
Uptake of dietary cobalamins into enterocytes The steps of transport of dietary cobalamins through the digestive tract to the distal ileum, leading to its endocytosis are annotated here. The proteins involved in these processes accommodate cobalamins including cyanocobalamin, methylcobalamin, and adenosylcobalamin. (Banerjee et al. 2021; Nielsen et al. 2012; Quadros 2010). This broad specificity is indicated by annotating R-cob(III)alamin (RCbl - CHEBI:140785) as the cargo in all of these processes.
所含基因
10 个基因