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Pathology - Severe Combined Immunodeficiency Disease
SCID occurs from a genetic abnormality in stem cells, resulting in absence of the thymus and T and B lymphocytes. In one-half of patients, an autosomal recessive transmission results in the loss of adenosine deaminase, an enzyme involved in purine catabolism. This leads in an accumulation of hazardous deoxyadenosine triphosphate, blocking ribonucleotide reductase and limiting DNA synthesis and therefore lymphocyte proliferation. In other cases, an X-linked transmission leads in absent gamma chain of the interleukin receptor, slowing lymphocyte growth due to issues with interleukin signaling. These patients will present with recurring bacterial, viral, parasite, and fungal infections at a relatively young age; however, maternal antibodies may delay commencement by a few months. Infections will become quite dangerous and include pneumonia, bacteremia, sepsis, and meningitis. Life span is often very short without treatment; however, early discovery and treatment with gene therapy and bone marrow transplantation can be curative.
SCID occurs from a genetic abnormality in stem cells, resulting in absence of the thymus and T and B lymphocytes. In one-half of patients, an autosomal recessive transmission results in the loss of adenosine deaminase, an enzyme involved in purine catabolism. This leads in an accumulation of hazardous deoxyadenosine triphosphate, blocking ribonucleotide reductase and limiting DNA synthesis and therefore lymphocyte proliferation. In other cases, an X-linked transmission leads in absent gamma chain of the interleukin receptor, slowing lymphocyte growth due to issues with interleukin signaling. These patients will present with recurring bacterial, viral, parasite, and fungal infections at a relatively young age; however, maternal antibodies may delay commencement by a few months. Infections will become quite dangerous and include pneumonia, bacteremia, sepsis, and meningitis. Life span is often very short without treatment; however, early discovery and treatment with gene therapy and bone marrow transplantation can be curative.
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