Pathoma - Ch. 3 - Primary Immunodeficiency *not finished/ not relevant yet* Flashcards
1
Q
describe DiGeorge Syndrome
A
- developmental failure of the 3rd and 4th pharyngeal pouches
- due to 22q11 microdeletion
2
Q
what will pts with DiGeorge syndrome present with?
A
- T cell deficiency (lack of thymus) (always get sick with viral and fungal infctions)
- hypocalcemia (lack of parathyroids)
- abnormalities of heart, great vessels, and face
3
Q
what is SCID
A
severe combined immunodeficiency
-defective cell-mediated and humoral immunity
4
Q
what is the etiologies of SCID? what are the characteristics?
A
- cytokine receptor defects
- adenosine deaminase deficiency
- MHC II Deficiency
susceptibility to fungal, viral, bacterial and protozal infections
- including opportunitistic Infections and live vaccines
5
Q
treatment for SCID
A
- sterile isolation
- stem cell transplant
6
Q
A
