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Type I hypersensitivity
Autoimmune hemolytic anemia
Hemolytic disease of the newborn
Rheumatic heart disease
Type II hypersensitivity
Systemic lupus erythematosus
Type III hypersensitivity
Type IV hypersensitivity
Common variable immunodeficiency
Hyperimmunoglobulin E syndrome
IgG subclass deficiency
Isolated primary immunoglobulin M deficiency
Selective immunoglobulin A deficiency
Adenosine deaminase deficiency
Hyper IgM syndrome
Severe combined immunodeficiency
Cytomegalovirus infection after transplant (NORD)
Post-transplant lymphoproliferative disorders (NORD)
Chronic granulomatous disease
Leukocyte adhesion deficiency
Blood transfusion reactions and transplant rejection: Pathology review
Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review
Immunodeficiencies: Phagocyte and complement dysfunction: Pathology review
Immunodeficiencies: T-cell and B-cell disorders: Pathology review
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Adenosine Deaminase Deficiency
adenosine deaminase deficiency p. 115
adenosine deaminase deficiency as cause p. 35
Adenosine deaminase deficiency, or ADA deficiency, is a rare genetic disease, that results in severe combined immunodeficiency, or SCID for short.
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.
So, the name of a deoxyribose-containing, triphosphatic nucleotide, based on adenine, that makes up DNA would be deoxyadenosine triphosphate, or dATP, for short.
These nucleotides are needed in equal proportions in order to make cellular division run smoothly.
Now, nucleotides have a functional lifetime of their own, and our body has mechanisms on how to break them up into their building blocks, to be either excreted or recycled.
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.
First, B lymphocytes, or B cells, produce immune proteins called antibodies, which seek out and latch on onto an invader, marking it for destruction by other cells.
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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