Exam 3 Feed Flashcards
- Another example of this rxn:
Asthma
- Chronic Rejection:
Attack on the vasculature…
Attack on the vasculature…
- Marfan Syndrome
Fibrillin-1
- If the T cells in the transplanted organs attacked
the recipient’s organs, this would be called
GVHD
xxx
xxx
- Mutation of small insertion or deletions in alteration in reading frame mutation involving coding sequence
Frameshift mutation
- Which of the Niemann-Pick Disease types is fatal or severe with CNS affectation
Type A
- In this event, what event in John’s immune system caused the reaction?
Degranulation of mast cells and basophils
- Most common disorder in males.
Trisomy 21 (g-trisomy)
extra:
Trisomy 13 or D-trisomy (Patau syndrome)
Trisomy 18 or E-trisomy (Edward syndrome)
- Defects in Beckwith-Wiedemann Syndrome except:
Neonatal hyperglycemia
- Inability to metabolize G gangliosides due to lack of a-subunit of lysosomal hexosaminidase …leads to mental retardation.
Tay Sachs
- T cell non-functional, thymus is absent, abnormalities in face and heart.
DiGeorge Syndrome
GLYCOGEN STORAGE DISEASES
Type 2 Pompe (acid-α-glucosidase) , von Gierke
(Glu-6P-ase), McArdle (phosphorylase), most studied and discussed, and referred to
- Roto-oncogene protein involved in signal transduction
A. TGF alpha
B. RET
C. KRAS
D. NMYC
C. KRAS
- Inherited fatal genetic lipid storage disorder…
ganglioside GM2
- Represents disagreement between phenotypic and gonadal sex?
Pseudohermaphroditism
Edward Syndrome vs Patau Syndrome
Edward: trisomy 18, e-trisomy; webbing of neck, clenched fists with overlapping fingers
Patau: Trisomy 13 or D-trisomy, bilateral cleft lip/palate
- DiGeorge Syndrome
Thymic hypoplasia/ aplasia
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- Professional Antigen Presenting Cells except:
CD4+ T Cells