Lecture 1 Primary Immunodeficiency Flashcards
Pluripotent stem cells develop into what 3 types of cells
Premyloid
Lymphocyte committed stem cells
Promonocyte
What is primary immunodeficiency
Genetic, congenital disorder where part of the immune system is either missing or functioning abnormally
T-cell defects lead to what type of infections (8)
Low-virulence mycobacteria Cytomegalovirus Kaposi sarcome Lymphoma Pneumocystitis TB Herpes and Herpes zoster Candida
Phagocyte defects lead to what type of infections (4)
Candida
Staphylococci
Gram-negative bacteria
Invasive fungi
Complement defects lead to what type of infections (2)
Neisseria meningitidis
Encapsulated bacteria
B-cell defects lead to what type of infection
Encapsulated bacteria
Repeated infection with encapsulated bacteria is a sign of what?
Defective antibody production
Antibody deficiency (IgG and IgA) leads to___
Recurrent respiratory infections pneumococcus or Haemophilus spp.
Recurrent Candida infection is suggestive of defects in the ___ pathway
TH17
What are the 3 main causes of primary immunodeficiency
Mutations
Polymorphism
Polygenic disorder
What is a cure for Severe Combined Immunodeficiency (SCID) that needs to be done quick to be successful
Stem cell transplant
What are alleles
Different forms of the same gene occurring at a single locus
Define polymorphic
Involves one or two or more variants of a particular DNA sequence
What type of alleles are polymorphic
HLA alleles
Polymorphisms in what2 things affect the risk of infections
MBL and complement
Consanguinity would suggest what type of inheritance
Autosomal recessive
Is Autosomal Recessive SCID
A) Monogenic
B)Polygenic
C)Autoantibodies
Monogenic
What is the clinical presentation of severe combined imunodeficiency
Develop infections i first weeks of life
Unusual or recurrent infection
Diarrhoea
Unusual rashes
What would the lymphocyte count look like in someone with severe combined immunodeficiency
Very low total
What is the clinical presentation of antibody deficiency
Presents later in life
Chronic or recurrent bacterial respiratory infections
What should be measured when trying to diagnose antibody deficiency
IgG, IgA and IgM levels
Antibodies againist pneumococcus and haemophilus spp.
How is primary immunodeficiency treated
Prophylactic antibiotics (mild) Immunoglobin replacement (severe) Gene therapy - SCID
