Immunodeficiency Flashcards
Primary vs secondary immunodeficiency:
Primary is genetic defect
Secondary is effect of external or breakdown in body systems which then affect the immune system
3 examples of primary immune deficiencies affecting the innate immune system?
Chronic Granulomatous disease
Leukocyte adhesion deficiency
Complement deficiency
Describe CGD:
NADPH oxidase components defect affecting phagocytic cells
Leukocyte adhesion deficiency:
B2 integrin defect affecting neutrophils and monocytes
Describe complement deficiency:
Complement gene defects eg C8 cant make MAC
Most profound complement deficiency
C3 gene
Which CGD is x-linked?
gp91- goes through membrane
3 B cell, 2 T cell and 1 overall primary immunodef:
B:
Selective IgA def
Hyper IgM syndrome
X-linked agammaglobulinemia
T cells:
Wiskott-Aldrich syndrome
Digeorge syndrome
SCID
What is selective IgA deficiency? explain 3
Decerased IgA or no IgA
But in most people it is asymptomatic
Use poly Ig receptor to take IgM to mucousal surfaces and compensate
What is hyper IgM syndrome? why?
Defects such as CD40L (T cells)defect, or any other genes helping signalling e.g. NEMO No class switching
What is bruton’s tyrosine kinase defect?
X-linked agammaglobulinemia - no Igs
What is the wiskott Aldrich syndrome?
WASP defect
What is DiGeorge syndrome?
TBX1 gene defect , no thymus or partially developed thymus
Example of defective enzymes in SCID?
RAG, Yc, JAK3
Which Immunodeficiencies are X linked? usually
CGD gp91
DiGeorge
Agammaglobulinemia
SCID (40%)