From the treatments of Ashanthi DeSilva in 1990 which is considered gene therapys first success until 2014 around 60 patients were treated for either ADA-SCID or X-SCID using retroviruses vectors but as previously mentioned the occurrence of cases developing leukemia forced to make changes to improve safety, more recently in 2019 a new method using an altered version of the HIV virus as a lentivirus vector was reported in the treatment of 8 children with X-SCID, and in 2021 the same method was used in 50 children with ADA-SCID obtaining positive results in 48 of them.There are also some non-curative methods for treating SCID. Reverse isolation involves the use of laminar air flow and mechanical barriers (to avoid physical contact with others) to isolate the patient from any harmful pathogens present in the external environment. A non-curative treatment for patients with ADA-SCID is enzyme replacement therapy, in which the patient is injected with polyethyleneglycol-coupled adenosine deaminase (PEG-ADA) which metabolizes the toxic substrates of the ADA enzyme and prevents their accumulation. Treatment with PEG-ADA may be used to restore T cell function in the short term, enough to clear any existing infections before proceeding with curative treatment such as a bone marrow transplant. Epidemiology
The most commonly quoted figure for the prevalence of SCID is around 1 in 100,000 births, although this is regarded by some to be an underestimate of the true prevalence; some estimates predict that the prevalence rate is as high as 1 in 50,000 live births.
A tophus (Latin: "stone", plural tophi) is a deposit of monosodium urate crystals, in people with longstanding high levels of uric acid in the blood, a condition known as hyperuricemia. Tophi are pathognomonic for the disease gout. Most people with tophi have had previous attacks of acute arthritis, eventually leading to the formation of tophi. Chronic tophaceous gout is known as Harrison Syndrome.Tophi form in the joints, cartilage, bones, and other places throughout the body. Sometimes, tophi break through the skin and appear as white or yellowish-white, chalky nodules. Without treatment, tophi may develop on average about ten years after the onset of gout, although their first appearance can range from three to forty-two years. The development of gouty tophi can also limit joint function and cause bone destruction, leading to noticeable disabilities, especially when gout cannot successfully be treated. When uric acid levels and gout symptoms cannot be controlled with standard gout medicines that decrease the production of uric acid (e.g., allopurinol, febuxostat) or increase uric acid elimination from the body through the kidneys (e.g., probenecid), this can be referred to as refractory chronic gout (RCG). They are more apt to appear early in the course of the disease in people who are older. Although less common, tophi can also form in the kidneys and nasal cartilage. Pathophysiology
It appears that monosodium urate crystals trigger a distinct physiological NETosis pathway that coats them in DNA. These coated crystals then persist in tissues as a foreign body granuloma constituting gouty tophus.