Immuno 2: Primary Immuno Defficiency Flashcards
Which Primary immunodeficiency disease is autosomal recessive and prevents stem cells from differentiating along myeloid or lymphoid cell Lines ?
Reticular dysgenesis
- causes recessive severe SCID
Which primary immunodeficiency disease is characterised by failure of development of neutrophils ?
Kostmann syndrome
-Causes autosomal recessive congenital neutropenia
Which primary immunodeficiency disease is characterised by cycles of reduced neutrophils (e.g every month) ?
Cyclical neutropenia
Which two Cluster of differentiation (CD) markers make up LFA-1 ?
CD11a
CD18
What is the endothelial cell receptor for LFA-1 that regulates Neutrophil adhesion/transmigration ?
ICAM-1
In which primary immunodeficiency disease do you get a defect in Neutrophil adhesion/transmigration across endothelial cells ?
V high neutrophil count and no pus formation
Leukocyte adhesion deficiency (LAD)
-CD18 deficiency causes LFA-1 defect which stops it binding to ICAM-1
In which Primary immunodeficiency disease do you have a failure of oxidative killing mechanisms causing excessive inflammation and granulomas ?
Chronic Granulomatous disease
Also get lymphadenopathy and hepatosplenomegaly
Which 2 tests can be used to diagnose Chronic Granulomatous disease ?
Nitroblue tetrazolium test (NBT)
DIhydrorhodamine flow cytometry test
Which 2 cytokines are important in activation signalling between macrophages and T cells ?
IL12
IFN gamma
Deficiency of either IL12 or IFN gamma causes an increase of infections with …….
Atypical mycobacterium infections
What is the treatment for Chronic Granulomatous disease ?
Interferon Gamma therapy
What is the definitive treatment of primary immunodeficiency diseases ?
Haematopoietic stem cell transplant
Which infections are people with Natural killer cell deficiency particularly at risk of ?
Herpes Virus infections
Where are complement proteins produced ?
The liver
What type of infection are people with complement deficiency prone to
Encapsulated Bacteria