what does SPUR stand for?
Serious Persistent Unusual Recurrent [regarding infections]
what are 3 common upper resp tract infections?
- sinusitis
- otitis media
- laryngeal angioedema
what are 4 common lower resp tract infections?
- pneumonia
- ILD
- malignancies
- bronchitis/bronchiectasis
what is sinusitis and otitis media associated with?
primary antibody deficiency
what 4 things are under the bracket of primary antibody deficiency?
- selective IgA deficiency
- specific antibody deficiency
- common variable immunodeficiency
- x-linked agammaglobulinaemia
what is laryngeal angioedema associated with?
complement system disorder
what is a complement system disorder?
hereditary angioedema
what is pneumonia associated with?
- primary antibody deficiency
- complement system disorder
- congenital phagocytosis disorder
- combined immunodeficiency
what happens to risk of infection as neutrophil rises?
risk of infection decreases
what condition is associated with severe congenital neutropenia?
kostmann syndrome
what happens in Kostmann syndrome?
= low neutrophils count, therefore there is recurrent bacterial/fungal infections occurring after 2 weeks from birth
what gene is associated with Kostmann?
ELANE gene on chromosome 19p13.3
how do you treat Kostmann syndrome?
G-CSF gene
growth factor
what is leukocyte adhesion deficiency?
high neutrophil count as neutrophils fail to bind to adhesion molecules, then therefore cannot undergo trans-endothelial margination out the cell
what gene is associated with leukocyte adhesion deficiency?
CD18 integrin gene
what is chronic granulomatous disease?
= the failing of intra-cellular phagocytosis due to lack of NADPH oxidase and as a result granulomas form
what gene is associated with chronic granulomatous disease?
p47phox gene
also
a defect on IL-12 INFgamma gene
describe why a defect in IL-12 INFgamma gene would result in chronic granulomatous disease.
- macrophages produces IL-12
- IL-12 stimulates T cells
- T cells activate INF
- INF produce TNF
- TNF produce NADPH oxidase
If there is a defect in this, then no/less NADPH oxidase is produced resulting in granuloma formation
what bacteria is associated with infections in chronic granulomatous disease?
- staph aureus
- aspergillus
- pseudomonas
Internal bacteria;
- salmonella
- mycobacterium
describe the neutrophil levels in chronic granulomatous disease?
acutely = neutrophil count is high
latterly once granulomas are formed = neutrophil count gos to normal
how would you treat chronic granulomatous disease?
- stem cell transplant
- gene therapy
- gamma interferon therapy
where do B cells mature?
bone marrow
where do T cells mature?
thymus
where do T cells arise?
haematopoetic stem cells in bone marrow
