XSCID By Luke Popelka
The name of the disease is XSCID. The gene that the mutation occurs in to cause this disease is in the immune system. The protein that is produced in this is B-lymphocytes, T-lymphocytes, NK-lymphocytes and phagocytes. The disease was reported in 1972 and they discovered it by adenosine deaminase (ADA) deficiency. There is actually no certain number on the amount of babies diagnosed in the US but they estimate 40-100 a year so it is a rare disease however worldwide, there are more cases of XSCID. The male gender is at a much higher risk for this disease and females rarely get it. The symptoms to this disease are poor growth, rashes that look like eczema, chronic diarrhea and recurrent thrush in the mouth, and frequent and often very severe repertory infections. The disease is diagnosed almost all of the time when the baby is older than six months, beforehand, the doctors usually don’t count the white blood cells. They are diagnosed with recurrent infections and failure to thrive. The only treatment currently used is bone marrow transplant which provides a new immune system for the patient. There are over thirteen different types of prognosis and they can all relate to very serious infections.Mostly males will get this disease and it will be in the genes. The current research is to find a more accurate number of the amount of people diagnosed every year and for more treatments.
"Types of SCID" ["Types of SCID"]. ADAGEN, edited by Sigma-Tau Pharmaceuticals,Sigma-Tau Pharmaceuticals, www.adagen.com/types_of_SCID.html. Accessed 31Jan. 2017.
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"X-Linked Severe Combined Immunodeficiency" ["X-Linked Severe CombinedImmunodeficiency"]. NCBI.nlm.nih.gov, www.ncbi.nlm.nih.gov/books/about/copyright/. Accessed 5 Feb. 2017.