Syndromes

 Omenn Syndrome : missense mutation RAG causes decrease function (A.R.)

o B cells missing
o T cell decreased
 SCIDS: Rag 1 and 2 genes null mutation ( cant form chains)
o A.R.
o No B or T cells

SCIDS (no proliferation with mitogen)

 X linked : IL-2 Receptor ( gamma chain) ( affect IL-2,4, 7)
 A.R.: Adenosine deaminase deficiency
 A.R. nonsense mutation Rag 1 and 2

* MHC II/ Bare lymphocyte mimic the SCIDS but proliferate with mitogen .

Atopy: allergic rxns etc

Burtons agammaglobinemia
-Normal Pro B cell., the Pro cant go further

Chronic Mucocutaneous Candidiasis

 Inability for T cells to produce cytokines to combat Candida Infection
 On skin, mouth, sometimes esophagus
 Infant have diaper dermatitis
 Need Fluconazole
 Auto recessive or spontaneous auto dominant

IL-12 deficiency: diminished TH1 response therefore mycobacteria attack

Catalase + infect Chronic Granulomatous Disease

 Staph aureus, Pseudomonas, E.coli, ASpergillus
 NTD test, if diseased (-) test , don’t turn blue
LAD:
 CD18 on integrin LFA-1 ( beta chain)

HIV
 Normal ratio 2:1 CD4 to CD8
 In aids it reverses 1:2
 CCR5 co receptor on the macrophage and dendritic cells
-the macrophage and dendritic ARE NOT killed by HIV
-act as reservoirs for the disease
 Immune evasion
 -Anitgenic drift of gp 120
-glycosylation of gp 120 ( like a mask)
-Tat inhibit cytokine synthesis
-Nef decrease MHC 1
 Testing
1. ELISA: Antigen on plate, Add patients serum ( see if have Ig), then add ant-
human IgG and colour change +
2. Westenr Blot ( confirmatory) : Antigen on nitrocellulose
-Add patient serum ( antibodies)
-Add anti- human Ig ( radiolabelled)
* test for p24: capid
-gp 160 : envelope protein
-GP 120 : attatch
-gp 41: fusion and entry

CHediak- Higashi Syndrome

 ( LYST gene mutation) : lysosomal storage protein
 PARTIAL ALBINISIM

Hypersensitivity Rxns
1. Early phase is degranulation : histamine, eosinophil chemoatractant, heparin
Late phase rxn: Leukotriens and prostaglandins made
Job’s Syndrome/ Hyper IgE
 Th1 don’t make enough IFN-gamma therefore PMN cant respond
 Absesses that are without inflammation “ cold”
 Retain primary teeth, eczema