Immunodeficiencies (Rutgers)
12 important questions on Immunodeficiencies (Rutgers)
What is the difference between primary and secondary immune deficiency?
Secondary immune deficiency is therapy related or disease related (HIV, diabetes, malnutrition)
What is SCID? What is the mechanism behind this disease?
SCID is an X-linked recessive genetic disorder which causes mutation on the IL2RG gene.
The IL2RG gene creates a key part of lymphocyte surface receptors called the "common" gamma chain, because it is a "common" component of lymphocytes receptors for several cytokines, including IL-2.
Describe the gene therapy used for SCID
2) Cells are selected for CD34+ (heamopoietic stem cells)
3) Cells are activated by growth factors and cytokines.
4) Cells are transduced with MFG retrovirus coding for gamma-c
5) After three rounds the cells are reinfused into the patient.
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During gene therapy the number of CD3+ cells increase. What does this mean?
So it could be said it enhances the patients immunity.
One innate immune deficiency is Chronic Granulomatous Disease (CGD). What are the characteristics of this disease?
This defect results in susceptibility for bacterial, fungal, and yeast infections.
One innate immune deficiency is Leukocyte Adhesion Deficiency (LAD). What are the characteristics of this disease?
Or in CD15, where leukocytes cannot "role" across the surface.
One innate immune deficiency is Chédiak-Higashi syndrome. What are the characteristics of this disease?
- Recurrent pyogenic infections (pus-forming infections?
- Oculocutaneous albinism (albinism with vision problem)
- Non-neoplastic lymphocytic infiltration of organs
A relatively new discovered innate immune deficiency are Toll like receptor signalling defects. What are the characteristics?
Defects in interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor 88 (MyD88) lead to susceptibility to infections with bacteria.
Individuals deficient in components of the alternative and terminal complement pathways are highly predisposed to invasive, often recurrent meningococcal infections. Why is this?
Adaptive immune system deficiencies result in defect in what cells and which 2 processes?
What is the cause of cross-priming defects in T cells?
There can be either an deficiency in the CD40L receptor on the CD4+ helper T cell or the CD40 receptor on the B cell.
CVID is the most prevalent immundeficiency. What does it entail?
Characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM and IgA.
The cause of CVID is poorly understood. Deletions in genes that encode cell surface proteins and cytokine receptors, such as CD19, CD20, CD21, and CD80, is a likely cause.
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