Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals
نویسندگان
چکیده
منابع مشابه
Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation
Inherited mutations in lipopolysaccharide-responsive beige-like anchor (LRBA) cause a recessive human immune dysregulation syndrome with memory B-cell and antibody deficiency (common variable immunodeficiency), inflammatory bowel disease, enlarged spleen and lymph nodes, accumulation of activated T cells and multiple autoimmune diseases. To understand the pathogenesis of the syndrome, C57BL/6 m...
متن کاملChronic venous abnormalities in symptomatic and asymptomatic protein C deficiency.
BACKGROUND Thrombophilia is a frequent medical condition associated with symptomatic deep vein thrombosis (DVT). Unlike other clinical risk factors associated with DVT, such as surgery, thrombophilia has not been demonstrated to be associated with asymptomatic venous thrombotic events. Our aim was to search for asymptomatic sequelae of DVT in a protein C (PC)-deficient family. METHODS We stud...
متن کاملConnexin43 Deficiency Causes Delayed Ossification, Craniofacial Abnormalities, and Osteoblast Dysfunction
Connexin(Cx)43 is the major gap junction protein present in osteoblasts. We have shown that overexpression of Cx45 in osteoblasts expressing endogenous Cx43 leads to decreased cell-cell communication (Koval, M., S.T. Geist, E.M. Westphale, A.E. Kemendy, R. Civitelli, E.C. Beyer, and T.H. Steinberg. 1995. J. Cell Biol. 130:987-995) and transcriptional downregulation of several osteoblastic diffe...
متن کاملBeneficial effects of valsartan in asymptomatic individuals with vascular or cardiac abnormalities: the DETECTIV Pilot Study.
OBJECTIVES We studied the efficacy of valsartan (Val) to slow cardiovascular disease progression in asymptomatic high-risk prehypertensive or hypertensive patients with blood pressure (BP) controlled to <140/90 mm Hg and with evidence for functional or structural alterations in the cardiovascular system. BACKGROUND Identifying individuals with early markers for cardiovascular disease raises t...
متن کاملDeficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration.
TRIM RING finger proteins have been shown to play an important role in cancerogenesis, in the pathogenesis of some human hereditary disorders, and in the defense against viral infection, but the function of the majority of TRIM proteins remains unknown. Here, we show that TRIM RING finger protein TRIM2, highly expressed in the nervous system, is an UbcH5a-dependent ubiquitin ligase. We further ...
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: Journal of Clinical Immunology
سال: 2016
ISSN: 0271-9142,1573-2592
DOI: 10.1007/s10875-016-0266-5