An Slfn2 mutation causes lymphoid and myeloid immunodeficiency due to loss of immune cell quiescence
نویسندگان
چکیده
منابع مشابه
Loss of T-cell quiescence by targeting Slfn2 prevents the development and progression of T-ALL
T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive malignancy of thymocytes. Despite significant improvement in the treatment of T-ALL, approximately 20% of children and most adults undergo relapse. Previous findings demonstrated that loss of T-cell quiescence due to a mutation in the Slfn2 gene (elektra) leads to acquisition of an aberrant developmental program by which T-cells lose ...
متن کاملBiallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity
Primary immunodeficiency disorders enable identification of genes with crucial roles in the human immune system. Here we study patients suffering from recurrent bacterial, viral and Cryptosporidium infections, and identify a biallelic mutation in the MAP3K14 gene encoding NIK (NF-κB-inducing kinase). Loss of kinase activity of mutant NIK, predicted by in silico analysis and confirmed by functio...
متن کاملHeterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a regulatory subunit. We and others have previously reported that heterozygous mutations in PIK3CD encoding the p110δ catalytic PI3K subunit cause a unique disorder termed p110δ-activating mutations causing senescent...
متن کاملInsensitivity to pain due to Genetic Mutation
Pain is neuroanatomically, psychologically and neurophysiologically complicated and its first function is protecting all alive creature body. This issue is so questionable and interesting that people who don’t feel pain how face this sensation and what problems threaten them. So many researchers by using 73 references, articles from electronical and library references have done a clinical...
متن کاملHyper eosinophilia associated with myeloid and lymphoid neoplasms
Eosinophilia in the absence of allergies, asthma, drug reactions, parasitic infections and connective tissue diseases can be eosinophilic clonal disorders, lymphoma or myeloproliferative disorders. Hypereosinophilia with the persistence of eosinophils ≥1500 /mm³ in blood or more than 20% of eosinophils in the bone marrow may be observed in many reactive or clonal disorders, the result of which ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature Immunology
سال: 2010
ISSN: 1529-2908,1529-2916
DOI: 10.1038/ni.1847