Term
| Difference between congenital and acquired immunodeficiencies? |
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Definition
Primary - born with it - genetic abnormalities
Secondary - infection, nutritional abnormalities, medical treatments = loss of immune function |
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Term
| B Cell deficiencies typically: |
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Definition
Absent or reduced follicles and germinal centers
Reduced Igs
Prone to pyogenic bacterial infections |
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Term
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Definition
Due to reduced T cell zones
Result in reduced DTH rxns
Defective Tcell proliferation responses to mitogens.
Increased susceptibility to Viral and other intracellular infections (Pneumocystis Jiroveci)
EBV |
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Term
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Definition
| Severe combined immunodeficiency = defects in both B cells and T Cells |
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Term
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Definition
Defect in the γc chain of the IL-2 R'
This receptor also recieves IL-2, 4, 7, 9, 15
Il-7 is very important also for T cell maturation
Low T lymphs and NK cells
Low IgG because no T cell help for B cells |
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Term
| AutoRec SCIDs (there are 3) |
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Definition
- ADA and PDP mutations- these enxymes are involved in purine synthesis for rapidly dividing cells. Leads to build up of toxic purine metabolites (Low Ts and Low Ig in ADA, but normal normal Ig in PDP)
- Mutation in γc receptor (again)
- Mutations in Rag1 and Rag2 = poor Ig and TCR funtion
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Term
| X-linked agammaglobulinemia |
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Definition
"Bruton's agammaglobulinemia"
Defect in BTK gene, leading to a defect in Btk
Btk is a kinase involved in the pre-B R' signaling pathway
No B Cells past the pre B stage
Almost no Ig of any type. |
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Term
| Chromosomal deletion of 14q32 |
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Definition
Deletion of Heavy chain IgG1,2 or 4
Sometimes A or E is missing, too. |
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Term
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Definition
Incomplete development of the thymus and parathyroid glands. This is due to hypoplasia of the 3rd (thymus and parathyroid) and 4th (superparathyroid) pharyngeal pouches.
Leads to failure of Tcell maturation.
Low Tcells and normal B cells, but low Ig
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Term
| X-Linked Hyper IgM syndrome |
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Definition
Mutations in CD40L (CD154), so T Cells cannot activate class-switching in Bcells
Also a defect in T Cell activation of Macrophages. |
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Term
| Common Variable immunodeficiency. |
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Definition
Mutations in the R' for B Cell growth factors.
Reduced levels of IgM, IgG and IgA. |
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Term
Bare Lymphocyte Syndrome.
Other form of T Cell activation defect. |
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Definition
Mutations in the transcription factors that express MHC II (HLA-D)
Defective activation of T Cells
Sometimes the cause is defective signaling pathways (CD3 and ZAP-70). |
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Term
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Definition
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Term
| Leukocyte Adhesion Deficiency (LAD) |
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Definition
Mutations in genes encoding integrins of the enzymes involved in the expression of ligands for selectins.
Poor recruitment of leukocytes to inflammation.
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Term
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Definition
C3=usually fatal
C4 and C2 results in immune complex-mediated disease (lupus like - because the classical pathway is usually involved in clearing immune complexes)
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Term
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Definition
Mutation in a gene encoding a lysosomal trafficking protein
This results in defective lysosomal funtion in neutrophils, macrophages and dendritic cells.
Defective function of granules in NKs.
This is an innate malfuntion |
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Term
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Definition
X-linked disease that is a mutation in a protein that binds to adapter molecules in the cytoskeleton in hematopoietic cells.
Platelets and leukocytes are too small and fail to migrate properly.
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Term
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Definition
mutations in enzymes involved in DNA repair.
Gait abnormalities, vascular malformations and immunodef. |
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