Immunology Flashcards
IgA deficiency affects what type of surface?
Mucosal surfaces
Which cell type is affected in reticular dysgenesis?
Neutrophils (reduced production)
Which mutation is associated with reticular dysgenesis?
Enzyme adenylate kinase 2
Which primary immune deficiency is defined as an autosomal recessive congenital failure of neutrophil maturation?
Kostmann syndrome
Which enzyme is affected in cyclic neutropenia?
Neutrophil elastase
What is the inheritance pattern of cyclic neutropenia?
Autosomal dominant episodic neutropenia every 4-6 weeks
Which primary immune deficiency is associated a very high neutrophil account, and delayed umbilical cord separation?
Leukocyte adhesion deficiency
Which adhesion molecules are insufficiently expressed in Leukocyte adhesion deficiency?
CD11a/CD18 and CD11b/CD18
Which neonatal complication is associated with leukocyte adhesion deficiency?
Delayed umbilical cord separation
What neutrophil pathology is observed in leukocyte adhesion deficiency?
Neutrophilia (raised neutrophil count)
Which primary immunodeficiency is characterised by deficient NADPH oxidase?
Chronic granulomatous disease
Which investigations are indicated for establishing the diagnosis of deficiency oxidative killing?
Nitro-Blue Tetrazolium test
and
DHR flow cytometry
What NBT test result is observed in chronic granulomatous disease?
Negative
(dye normally changes colour from yellow to blue following the interaction with hydrogen peroxide)
In DHR flow cytometry test, DHR is oxidised to what, following the interaction with hydrogen peroxide?
Rhodamine
What is the management for chronic granulomatous disease (NADPH oxidase deficiency)?
Interferon gamma
What enzyme is deficient in chronic granulomatous disease?
NADPH oxidase (oxygen is not converted to superoxide)
In chronic granulomatous disease (NADPH oxidase deficiency), which types of organisms proliferate?
Catalase positive bacteria
PLACES
Pseudomonas
Listeria
Aspergillus (mould)
Candida (fungus)
Staph aureus
Serratia
Deficiency of which interleukin predisposes individuals to mycobacteria?
IL-12 and IFN-y (Inability to form granulomas - as infected macrophages typically produce IL12)
Which factors are associated with the alterantive pathway?
Factor B, D, P (properdin)
Alternative pathway complement deficiencies predisposes the host to which type of bacteria?
Encapsulated organisms
What role does properdin have in the complement cascade?
Stabilises C3 convertase - triggers the membrane attack complex (MAC
Classical pathway complement deficiency is associated with which type III hypersensitivity disorder?
SLE
Which complement (C) is the divergence point for all complement pathways?
C3
C3 deficiency predisposes the host to recurrent infected by which type of bacteria (Name 3)?
(esp. encapsulated – meningococcus, streptococcus, haemophiles)