DOCK8 deficiency is a rare immune disorder named after the mutated gene responsible for the disease. NIAID researchers discovered the cause of DOCK8 deficiency in 2009. People with this syndrome have lower-than-normal numbers of immune cells, which have a diminished capacity to move through dense tissues like the skin.

DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses.

DOCK8 immunodeficiency syndrome is a rare genetic disorder of the immune system characterized by recurrent viral infections of the skin and respiratory system. People with DOCK8 immunodeficiency syndrome typically have allergies, asthma, and an increased risk of …

2024年12月24日 · DOCK8 (Dedicator Of Cytokinesis 8) is a Protein Coding gene. Diseases associated with DOCK8 include Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections and Combined Immunodeficiency Due To Dock8 Deficiency. Among its related pathways are Signaling by Rho GTPases and RAC1 GTPase cycle.

Dedicator of Cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending beyond recurrent infections to include atopy, autoimmunity and cancer.

dock8免疫缺陷综合征是由dock8基因突变引起的。 由该基因产生的蛋白质在几种类型的免疫系统细胞的存活和功能中起关键作用。 DOCK8蛋白的功能之一是帮助维持称为T 细胞的免疫细胞的结构和完整性识别和攻击外来入侵者的NK细胞，特别是当这些细胞进入体内感染 ...

2017年4月3日 · DOCK8 deficiency in humans results in the onset of combined immunodeficiency disease (CID), clinically associated with chronic infections with diverse microbial pathogens, and a predisposition to...

Dedicator of cytokinesis protein 8 (Dock8) is a large (~190 kDa) protein encoded in the human by the DOCK8 gene, involved in intracellular signalling networks. [5] It is a member of the DOCK-C subfamily of the DOCK family of guanine nucleotide exchange factors (GEFs) which function as activators of small G-proteins .

DOCK8 immunodeficiency syndrome is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels can be more than 10 times higher than normal for no known reason.

More than 130 mutations in the DOCK8 gene have been found to cause DOCK8 immunodeficiency syndrome (also called autosomal recessive hyper-IgE syndrome or AR-HIES). DOCK8 immunodeficiency syndrome is an immune system disorder that causes recurrent severe infections of the skin and respiratory tract.