Immunodeficiencies Flashcards
What are the three B cell deficiencies
Bruton Agammaglobulinemia
Selective Ig Deficiency
How would you characterize Bruton Agammaglobulinemia
It is x-linked and it is a defect in the Tyrosine Kinase gene. There are low levels of Ig.
Presents with recurrent bacterial infections at about 6 months because this is when moms antibodies wear off
Selective Ig characteristics
IgA deficit more than anything else.
Sinus and lung infections
What are the T cell immunodeficiencies
- DiGeorge
- Chronic mucocutaneous Candidiasis
- Hyper IgM
- Il-12 receptor deficiency
DiGeorge is a problem with what?
3rd and 4th branchial pouch development (no thymus and no parathyroids)
No mature T cell
Congenital defects in heart and great vessels
Recurrent viral, fungal, protozoal
22q11 deletion in 90% of ppl
Chronic mucocutaneous candidiasis?
T cell dysfunction that results in repeated candida infections
Hyper IgM leads to high IgM and low IgG
ok
IL-12 receptor deficiency
Susceptible to mycobacteria
What is SCID
Its an early stem cell differentiation problem due to adenosine deaminase deficiency.
You have No B, no T, but NK cells are present
SCID triad
1) severe recurrent infections
2) Pneumocystis pneumonia
3) Diarrhea and failure to thrive
Wiskott Aldrich?
ECZEMA is a big sign WAITER SYNDROME Wiskott Aldrich Immunodeficency Thrombocytopenia and purpura Eczema Recurrent Pyogenic infections
What are the 4 x-linked immunodeficiencies
Bruton agammaglobulinemia
Wiskott Aldrich
Chronic granulomatous dz
Ataxia Telangiectasia looks like
IgA deficiency and low Tcells
Cerebellar ataxia and poor sommoth pursuit of moving targets
Telangiectasias onface after age 5
High Cancer risk
What is chronic granulomatous disease
You have no NADPH oxidase to make oxygen free radicals
Susceptibility to catalase positive organisms
