NIK-->非经典NF-kB信号通路
中文名称
通路描述
除经典NF-kB亚基激活外，Dectin-1通过激活SYK通路诱导非经典NF-kB通路，该通路通过依次激活NF-kB诱导激酶（NIK）和IκB激酶α（IKKa）介导RELB-p52二聚体核转位。非经典NF-kB通路激活速度较慢且持续时间更长。该通路涉及NFKB2（核因子NF-κB）p100亚基的翻译后加工成熟为p52亚基，进而导致p52:RELB复合物核转位以诱导某些基因（如C-C motif chemokine 17 (CCL17)和CCL22）的表达及某些基因（如IL12B）的转录抑制。
英文描述
IKBKB deficiency causes SCID Four patients with early-onset, life-threatening microbial infections and failure to thrive were found to carry a homozygous duplication c.1292dupG in exon 13 of IKBKB gene that results in a lack of expression of IKBKB (Pannicke U et al. 2013). IKBKB deficiency is associated with severe combined immunodeficiency (SCID), a health condition characterized by low levels of immunoglobulins (hypogammaglobulinemia). Further phenotype assessment revealed that patients peripheral-blood B cells and T cells had normal counts but were almost exclusively of naive phenotype. Regulatory T cells and gamma delta T cells were absent.
所含基因
2 个基因