symptoms of di george syndrome
- lack of development of the media stinum
- cadiac anomalies
- hypoplastic thymus or complete absence of the thymus
- hypocalcemia (resulting from parathyroid hypoplasia
- facial abnormalities eg cleft palate
cause of di george
-deletion of chromosome 22
mnemonic for di george syndrome
CATCH 22
- cardiac anomalies
- abnormal face
- thymic aplasia
- cleft palate
- hypocalcemia
immunological symptoms of di george
- recurrent infection with
- intracellular bacteria
- fungi
- large viruses
- also pyogenic organisms due to B cell activation by t cells
SCID
- sever combined immune deficiency
- numerous forms of SCID that can result from any one of several genetic defects
- both humoral and cell mediated immunity are compromised due to the loss of b cell activation by t cells
- patients are susceptible to all types of infections
what is the most common form of scid, what causes it?
- mutation of the common chain of the IL2 receptor
- this is called x linked severe combines immunodeficiency
- IL2 is still made and functional but it can not bind to the mutated receptor to cause any effect
other forms of scid, other than x linked
-two types that are the most important and then the others are essentially mutations that would cause scid
- ADA def (adenosine deaminase)
- bare lymphocyte syndrome: your cels either dont have hla class 1 or 2
- abnormal signal transduction (mutations of protein kinase JAK3 or ZAP70) (RAG1 and RAG2)
- mutations of the CD3 molecule
- defective cytokine production
treatment of scid
- reconstitution of the immune system with stem cell transplant
- BUT beware of GVH disease
wiskott aldridge syndrome
-symptoms and teatment
- immunodef
- thrombocytopenia (purpura)
- eczema
- stem cell transplant
ataxia telangiectasis
ataxia
-telangiectasia
secondary immunodeficinecy of the humoral system
- lymphoma
- myeloma
- burns (lose antibodies rapidly through the plasma being secreted at the site)
secondary immunodefs of cell mediated immunity
-patients taking immunosupresents
-malnutrition
-
viral infections especially HIv
-aging
what does hiv make contact with in order to effect the host
- gp120 on CD4 protein
- gp41 on CCR5 (chemokine receptor)
what are the steps following an untreated hiv infection
- viral load spikes, t cells diminish progressively for 6/7 weeks until it begins to taper off
- viral load goes back down to nearly nothing by 12 weeks
- t cells go back up a but and then this stays constant for years until the virus suddenly becomes active and replicated very quickly until the host loses all of their t cells and begins to get opportunistic infections
laboratory diagnosis of HIV
- can detect HIV antigen or antibody in the blood
- reversal of the normal 2:1 ratio of Cd4 to CD8
- measure serum levels of HIV RNa to follow progress of the disease
what is the most common immunodeficiency
- aging
- significant and continuous deficiency
- decreasing number and function of many cell types such as neutrophils, APC’s, NK cells, and t cells
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Introduction to the Immune Respose26
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Antibody Structure and Function30
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Antibody genetics13
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B cell development17
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Antigen presentation18
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T cell differentiation19
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T cell activation21
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Cellular cooperation17
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Regulation Tolerance30
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Complement17
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transplantation and tumors22
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Immediate hypersensitivity10
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cytotoxic Reaction11
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Immune Def 116
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Immuno deficiency 216
