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GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes. [5] It regulates many genes that are critical for the embryonic development , self-renewal , maintenance, and functionality of blood-forming , lymphatic system-forming , and other tissue-forming stem cells .
Being the gene haploinsufficient, mutations that cause a reduction in the cellular levels of the gene's product, GATA2, are autosomal dominant. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lymphatic-forming, and other tissue-forming stem cells.
There is an association between rheumatoid factor and more persistently active synovitis, more joint damage, greater eventual disability and arthritis. [12] [13] Other than in rheumatoid arthritis, rheumatoid factor may also be elevated in other conditions, including: Systemic lupus erythematosus (SLE) [14] [15] Sjögren syndrome [14] [15]
[2] While the cause of rheumatoid arthritis is not clear, it is believed to involve a combination of genetic and environmental factors. [1] The underlying mechanism involves the body's immune system attacking the joints. [1] This results in inflammation and thickening of the joint capsule. [1] It also affects the underlying bone and cartilage. [1]
Hypoprothrombinemia can be the result of a genetic defect, may be acquired as the result of another disease process, or may be an adverse effect of medication.For example, 5-10% of patients with systemic lupus erythematosus exhibit acquired hypoprothrombinemia due to the presence of autoantibodies which bind to prothrombin and remove it from the bloodstream (lupus anticoagulant ...
Congenital hypofibrinogenemia must be distinguished from: a) congenital afibrinogenemia, a rare disorder in which blood fibrinogen levels are either exceedingly low or undetectable due to mutations in both fibrinogen genes; b) congenital hypodysfibrinogenemia, a rare disorder in which one or more genetic mutations cause low levels of blood ...
The precipitated clump can block blood vessels and cause the extremities to become gangrenous. While this disease is commonly referred to as cryoglobulinemia in the medical literature, it is better termed cryoglobulinemic disease for two reasons: 1) cryoglobulinemia is also used to indicate the circulation of (usually low levels of ...
Hypodysfibrinogenemia, also termed congenital hypodysfibrinogenemia, is a rare hereditary fibrinogen disorder cause by mutations in one or more of the genes that encode a factor critical for blood clotting, fibrinogen. These mutations result in the production and circulation at reduced levels of fibrinogen at least some of which is ...