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Adenosine deaminase deficiency
0 / 10 complete
0 / 3 complete
|Mean corpuscular volume||90 fL|
|T lymphocyte count||300/mm3|
|B lymphocyte count||170/mm3|
adenosine deaminase deficiency p. 115
adenosine deaminase deficiency as cause p. 35
SCID can be caused by a number of causes, so this particular variation is called ADA-SCID.
Let’s take a step back. Our cells have all the instructions on how to live and behave written on their own copy of DNA.
DNA is made out of four nucleotides, which can also do all kinds of cool stuff in their free time, like provide energy to various processes in the cell.
Nucleotides are made out of a sugar, in this case deoxyribose, one to three phosphate groups, and a nucleobase, which can be adenine, thymine, cytosine, or guanine.
These nucleotides are needed in equal proportions in order to make cellular division run smoothly.
Let’s focus on deoxyadenosine triphosphate.
First the enzyme adenosine deaminase removes an amine group from it, turning it into deoxyinosine monophosphate, or dIMP.
Then purine nucleoside phosphorylase comes in and removes the phosphate and the deoxyribose from dIMP, making hypoxanthine.
Hypoxanthine is then oxidised twice by xanthine oxidase - first to become xanthine, and then finally, to uric acid.
Uric acid can then be excreted by the kidneys, in the form of urine.
Now one class of cells that divides quickly and therefore relies heavily on cell division to work smoothly are lymphocytes.
Lymphocytes protect the body from pathogens, like bacteria and viruses in two ways.
Second, cytotoxic T lymphocytes, or cytotoxic T cells, as well as lymphocytes called natural killer cells, go cell to cell, looking for virally-infected cells or cells that look like they’ve started dividing uncontrollably - like a cancer cell.
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