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9 Cards in this Set
- Front
- Back
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What is SCID |
disorder of T cell number and function
Variable B cell and NK cell defects
Presentation is first several months of life
fatal in the first 2 years of life
recurrent infections typically involved fungi, viruses and other opportunistic infections |
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what are histopathological differences in SCId |
SCID lack cortex-medullary distinction |
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What are the immune cell deficiencies |
T lymphocytopenia is consistent
Variable B cells and NK cells |
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What are the classifications of immunpathogeneiss of Scid |
T-B-NK- SCId pan lymphocyte defect, lymphocyte metabolic defect and cytotoxicity
T-B-NK+ SCID failure of T cell and B cell antigen receptor development
T-B+NK- SCID multi cytokine receptor dysfunction leading to Tcell and NK cell developmental defect
T-B+NK+ Scid specific cytokine receptor deficiency leading to T cell development defect |
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What are some of the examples of the SCID classification |
TBNK- all is reticular dysgenesis or ADA def
TB- NK+ RAG1/2 Artemis Ligase IV or PNP def
T-B+NK- gamma chain or Jak3 def
T-B+NK+ IL-7 and CD3 def |
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What is Adeonsine Deaminase Def |
accounts for 15% of SCID
highest activity in immature thymocytes
other organ systems can be affected as well |
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SCID is an immunologic emergency |
infants healthy at birth but die of severe infections in infancy
can die from vaccines that are live
usually detect via counts and production of lymphocyte products such as cytokines |
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Newborn screening for T cell defects |
TREC assay perfroming in 26 states
TREC is a t cell antigen receptor that is spliced out during the formation of the receptor and VDJ recomb., as an excision circle |
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How do we treat SCID |
HSC transplant
Gene therapy
PEg-ADA for adenosine deaminsae def |
