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Lack of T cell function
- ... of an abnormally short, nonfunctional CARD11 protein. The lack of CARD11 function diminishes T cells' ability to fight foreign invaders, despite normal numbers ...
- ... from the other copy of the gene. The lack of STAT3's signaling function disrupts the normal maturation of T cells (specifically a subset known as Th17 cells) and ...
- ... protein. These variants are classified as gain-of-function variants because a ... and likely self-destruct. The lack of T cells and B cells makes it ...
- ... Levings MK, Roncarolo MG. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest. ... X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol. 2007 Oct;120(4): ...
- ... signaling, development of T cells is disrupted. A lack of T cells reduces the immune system's ability to fight ... Yunes JA, Barata JT. Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia. Nat Genet. 2011 Sep 4; ...
- ... K, Scifo E, Tyynela J, Jalanko A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys ...
- ... K, Scifo E, Tyynela J, Jalanko A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys ...
- ... DOCK8 protein impairs normal immune cell development and function. It is thought that T cells lacking DOCK8 protein cannot maintain their shape as ... reduced numbers of these cells. A shortage of T cells impairs the immune response to ... syndrome. A lack of DOCK8 protein also impairs B cell maturation ...
- ... is unable to control serine peptidase activity. The lack of LEKT1 function allows the serine peptidases to be abnormally active ... people with Netherton syndrome likely arises from a lack of LEKT1 control of ... system function. Excessive activation of the immune system caused by ...
- ... leading to fragile hair that breaks easily. A lack of lipase H function in the epidermis likely contributes to the skin ...