Immunology Flashcards
What are the clinical features of immunodeficiency?
SPUR
Serious infections
Persistant infections
Unusual infections
Recurrent infections
What is Kostmann Syndrome?
failure of neutrophil maturation so no neutrophils
What is the treatment of Kostmann Syndrome?
stem cell transplantation
prophylactic antibiotics and antifungals
What is Leukocyte adhesion deficiency?
failure of neutrophil adhesion and trans endothelial migration
i.e. have neutrophils but they cannot bind to the infection
What is Leukocyte adhesion caused by?
defect in leukocyte integrins (CD18)
What is Chronic Granulomatous disease?
failure to produce free radicals
- excessive inflammation
- persistant accumulation of neutrophils, activated macrophages and lymphocytes
- failure to degrade chemoattractants and antigens
What are phagocyte deficiencies?
Chronic granulomatous disease
Leukocyte Adhesion Deficiency
Kostmann Syndrome
How do you diagnose chronic granulomatous disease?
nitroblue tetrazolium test
What is the treatment of phagocyte deficiencies?
- aggressive management of infection
- surgical draining of abscess
- bone marrow transplant
What is SCID?
Severe Combined Immunodeficiency
- unable to produce T cells and B cells so body cannot fight infection
What are the clincial presentations of SCID?
present by 3 months of age
failure to thrive
persistant diarrhoea
infections of all types
What causes SCID?
Mutation of IL-2 receptor
Why does SCID only present after 3 months?
Baby is protected by maternal IgG until then
What is DiGeorge Syndrome?
T cell deficiency
- T cells are produce in the thymus however these individuals have an underdeveloped thymus so there is no where for them to mature
What are the consequences of DiGeorge Syndrome?
congenital heart defects cleft palate failure of thymic development hypocalcaemia etc...