Primary Immunodeficiency Flashcards
When would you expect susceptibility to start from a person with a B cell defect?
3-6 months after birth
Which organisms dominate when there is a B cell defect?
- Streptococci
- Staphylococci
- Haemophilus
- enteroviruses
When would you expect susceptibility to start from a person with a T cell defect?
From day 1
Which organisms dominate when there is a T cell defect?
Listeria, MTB, Toxo, fungi, protozoa
What do you call a B & T cell defect?
SCID - Severe combined immunodeficiency disease
-sick from birth
What are some B cell function tests?
- serum protein electrophoresis
- quantitation of specific Ig levels in blood
- check titers
- flow cytometry
What is the problem in X linked agammaglobulinemia?
Mutation in a signaling tyrosine receptor that is mandatory for growth and development of B cells [BLK]
-only pure B cell defect
Where can you find B-cells in X linked agammaglobulinemia?
- not in serum
- not in marrow or lymphoid tissue either
How would you treat X linked agammaglobulinemia?
IVIG
What is the problem in Hyper IgM syndrome?
mutation of CD40L on T cells
-most are x-linked
What is the treatment for Hyper IgM syndrome?
stem cell transplant
What is selective IgA deficiency?
- lacking IgA
- IgG and IgM levels are normal and compensate
- not associated with any specific infections
What is a clinical problem for selective IgA deficiency?
10% of patients may have anti-IgA antibodies which may cause anaphylactic reaction during blood transfusion or IVIG
What is EBV X-linked agammaglobulinemia?
- underlying defect is a mutation in signaling regulator of CD8 cells
- mutation activated by EBV infection of B cells
What causes the agammaglobulinemia in EBV X-linked agammaglobulinemia?
If patient survives the EBV, B cell depletion by cytotoxic T cells ensues