Lecture 13: Primary Immunodeficiency Disease Flashcards
Give 2 examples of single gene PID
APECED and IPEX
Why are PIDs most commonly seen in males?
70% of PIDs are X-linked recessive
What are some of the cellular defects that can occur in PID?
Compromised APC function of phagocytes, absence of all/subset of lymphocytes, B and T cell defects
What is Di George’s syndrome?
No thymus as a result of a whole gene locus deletion, results in no mature T cells
What soluble mediator defects can arise from PID?
Complement, cytokine, chemokine, antibody deficiency,
What cytokines do the different subsets of T cells produce?
Th1- IFN-g. Th2- IL-4. Th17- IL-17
What signs and symptoms are used to diagnose PID?
Abnormal response to infection (severe and recurrent), miscellaneous signs (lack/overactive immune tissue, wasting, poor wound healing, unexplained interstitial lung disease), family history
How would you test for a suspected PID?
Do a WBC count, measure levels of soluble molecules and test the cell functions in vitro.
What is the most common PID?
IgA deficiency
Give two examples of more rare disorders.
Severe combined immune deficiency (SCID) due to adenosine deaminase deficiency and common variable immune deficiency (CVID)
What is bare lymphocyte syndrome?
Lack of MHC class II
What are the treatment options for PID?
Antimicrobials to prevent infection, IVIg therapy, complement replacement, stem cell or gene therapy, thymic transplants (Di George’s)
What needs to be matched in a bone marrow transplant?
Blood type, MHC class I and II, gender match
What is Bruton’s agammaglobulinaemia?
Lack of mature B cells due to gene deletion causing an early stop codon resulting in no Ig heavy chain formation.
