Exam 3 Feed

Question 1

35. Another example of this rxn:

Answer 1

Asthma

Question 2

43. Chronic Rejection:

Attack on the vasculature…

Answer 2

Attack on the vasculature…

Question 3

21. Marfan Syndrome

Answer 3

Fibrillin-1

Question 4

45. If the T cells in the transplanted organs attacked

the recipient’s organs, this would be called

Answer 4

GVHD

Question 5

xxx

Answer 5

xxx

Question 6

1. Mutation of small insertion or deletions in alteration in reading frame mutation involving coding sequence

Answer 6

Frameshift mutation

Question 7

5. Which of the Niemann-Pick Disease types is fatal or severe with CNS affectation

Answer 7

Type A

Question 8

33. In this event, what event in John’s immune system caused the reaction?

Answer 8

Degranulation of mast cells and basophils

Question 9

10. Most common disorder in males.

Answer 9

Trisomy 21 (g-trisomy)

extra:

Trisomy 13 or D-trisomy (Patau syndrome)

Trisomy 18 or E-trisomy (Edward syndrome)

Question 10

18. Defects in Beckwith-Wiedemann Syndrome except:

Answer 10

Neonatal hyperglycemia

Question 11

17. Inability to metabolize G gangliosides due to lack of a-subunit of lysosomal hexosaminidase …leads to mental retardation.

Answer 11

Tay Sachs

Question 12

47. T cell non-functional, thymus is absent, abnormalities in face and heart.

Answer 12

DiGeorge Syndrome

Question 13

GLYCOGEN STORAGE DISEASES

Answer 13

Type 2 Pompe (acid-α-glucosidase) , von Gierke

(Glu-6P-ase), McArdle (phosphorylase), most studied and discussed, and referred to

Question 14

32. Roto-oncogene protein involved in signal transduction

A. TGF alpha
B. RET
C. KRAS
D. NMYC

Answer 14

C. KRAS

Question 15

8. Inherited fatal genetic lipid storage disorder…

Answer 15

ganglioside GM2

Question 16

15. Represents disagreement between phenotypic and gonadal sex?

Answer 16

Pseudohermaphroditism

Question 17

Edward Syndrome vs Patau Syndrome

Answer 17

Edward: trisomy 18, e-trisomy; webbing of neck, clenched fists with overlapping fingers

Patau: Trisomy 13 or D-trisomy, bilateral cleft lip/palate

Question 18

25. DiGeorge Syndrome

Answer 18

Thymic hypoplasia/ aplasia

Question 19

xxx

Answer 19

xxx

Question 20

30. Professional Antigen Presenting Cells except:

Answer 20

CD4+ T Cells

Question 21

34. Immunoglobulin involved in hypersensitivity I?

Answer 21

IgE

Question 22

29. Small subgroup on the antigen that are recognized by receptors of immune cells.

Answer 22

Epitope

Question 23

xxx

Answer 23

xxx

Question 24

16. Molecular analysis that uses DNA probes that recognize sequences specific to particular chromosomal regions?

Answer 24

FISH

Question 25

3. The following are autosomal dominant disorders except:

Answer 25

Fibrosis

Question 26

xxx

Answer 26

xxx

Question 27

26. It is a part of the adaptive immune system:

Answer 27

Plasma cells

Question 28

11. Cause Male hypogonadism

Answer 28

Klinefelter’s syndrome XXY (most common)

Question 29

41. Other term for primary type of isoform disease

Answer 29

Sicca

Question 30

38. Type IV

Answer 30

CONTACT DERMATITIS

Question 31

40. Neutrophil that has engulfed the antibody-coated nucleus of another

Answer 31

neutrophil | LE cell

Question 32

22. McArdle disease

Answer 32

Muscle Phosphorylase

Question 33

24. Tay Sach’s Disease (TSD)

Answer 33

Cherry red spot on the macula

Question 34

2. Largest category of Mendelian disorder

Answer 34

Autosomal recessive

Question 35

23. Patau Syndrome

Answer 35

47, XXY +13

Question 36

44. Transplanted organ is attacked by host T cells

Answer 36

Transplant rejection

Question 37

48. Nelson a 55 year old man complaining of yellow to white plaque in his tongue that cant be scraped off and a bluish to red oval shaped patches. His test CD4 count is below. This person is at risk:

Answer 37

if CD4 is below 500

Question 38

xxx

Answer 38

xxx

Question 39

37. Antibody detected for the laboratory diagnosis of SLE:

Answer 39

Antinuclear Antibody (ANA)

Question 40

6. In Ehlers -Danlos has the following manifestations;

Answer 40

all of the above: gross contortions, hypermobile joints, diminished wound healing

Question 41

9. One arm of chromosome is lost, the other is replicated resulting to two short or two long arm.

Answer 41

Isochromosome formation

Question 42

7. Cluster of autosomal recessive disorders; deficiency in enzyme glucocerebrosidase; most common lysosomal storage disorder:

Answer 42

Gauchers Disease

Question 43

autosomal dominant

Answer 43

HUNTINGTON DISEASE NEUROFIBROMATOSIS MYOTONIC DYSTROPHY TUBEROUS SCLEROSIS POLYCYSTIC KIDNEY HEREDITARY SPHEROCYTOSIS VON WILLEBRAND DISEASE MARFAN SYNDROME EHLERS-DANLOS SYNDROMES (some) OSTEOGENESIS IMPERFECTA ACHONDROPLASIA FAMILIAL HYPERCHOLESTEROLEMIA ACUTE INTERMITTENT PORPHYRIA

Question 44

4. Defect in Fibrillin-1

Answer 44

Marfan syndrome

Question 45

enzyme deficiency is largest known category, is mostly comprised of...

Answer 45

LYSOSOMAL STORAGE DISEASES comprise MOST of them

Question 46

46. 1 year old (male), multiple bacterial infection. Defective B cell

Answer 46

Bruton agammaglobulinemia

Question 47

12. 2nd most common genetic cause of mental retardation

Answer 47

Fragile X syndrome

Question 48

50. Brown to red patches in Nelson’s body are associated with:

Answer 48

Kaposis sarcoma

Question 49

49. Glycoprotein on the surface of HIV:

Answer 49

gp120 (kasama ni gp41)

Question 50

13. Complete or partial monosomy of the X chromosome and is characterized by hypogonadism in females

Answer 50

Turner Syndrome 45, X (missing other sex chromosome)

Question 51

Mechanisms to silence potentially autoreactive T cells

Answer 51

o Anergy | o Suppression by regulatory T cells o Activation-induced cell death