Congenital and Acquired Immunodeficiencies

Question 1

what is another name for Wiskott Aldrich Syndrome?

Answer 1

eczema-thrombocytopenia immunodeficiency

Question 2

what antibodies are high in WAS?

Answer 2

IgA/IgE

Question 3

what cells are abnormal in WAS?

Answer 3

B cells

Question 4

What is the Treatment for WAS?

Answer 4

bone marrow transplant

Question 5

What is deficient in X-linked SCID?

Answer 5

y (gamma) chain in the cytokines: IL-2/4/7/9/15

Question 6

what is affected in the other 2 autosomal SCID’s?

Answer 6

1) ADA
2) PNP

Question 7

what cell lineage is mostly affected in SCID?

Answer 7

T cells don’t mature

Question 8

what 2 symptoms are found in SCID?

Answer 8

no T helper cells

chronic baby diarrhea

no thymus develops

Question 9

In autosomal SCID-ADA what lymphocytes are deficient?

Answer 9

T cells

B cells

NK cells

Question 10

In autosomal SCID-PNP, what lymphocytes are absent?

Answer 10

no T cells

Question 11

in X-Linked SCID, what lymphocytes are absent?

Answer 11

T cells and therefore no B cells

Question 12

what is absent in DiGeorge?

Answer 12

The thymus

Question 13

what 3 signs are seen in DiGeorge?

Answer 13

1) abnormal jaw
2) abnormal aorta
3) abnormal parathyroid glands

Question 14

If there is a defect in the transport of MHC 1 molecules to the surface of the cells, I have this disease…

Answer 14

TAP deficiency

Question 15

what cells can’t load MHC 1 into their surface in TAP deficiency?

Answer 15

all nucleated cells

Question 16

what 2 things are mainly seen in TAP deficiency?

Answer 16

1) necrotizing granulomas
2) nose and face have skin lesions

Question 17

What lymphocyte is absent in XLA (brutton’s)

Answer 17

B cells

Question 18

what is the treatment for XLA?

Answer 18

and IV of Immunoglobulin’s IgA/IgE/IgM

Question 19

what happens if a polio vaccine is given to a kid with XLA?

Answer 19

he might suffer paralysis

Question 20

What physical thing is absent in XLA (brutton’s)?

Answer 20

tonsils

Question 21

what auto-antibodies are seen in IgA deficiency?

Answer 21

there may be autoantibodies against IgA

Question 22

how are IgA deficiency patients treated?

Answer 22

you treat specific infections

Question 23

what is deficient in X-linked Hyper IgM?

Answer 23

the CD-40L

Question 24

In X-linked hyper IgM, what cells can’t communicate? what happens do to this lack of communication?

Answer 24

t helper cell with B cell; t cell cant tell b cell to class switch

Question 25

What is the defect in Autosomal Hyper IgM? what is the result?

Answer 25

AID is not working causing B cell to not class switch, this means IgM is the only antibody present

Question 26

what is not being made in Chronic Granulomatous Disease?

Answer 26

Reactive oxygen species (ROS)

Question 27

what 2 things are seen in CGD patients?

Answer 27

1) Impetigo
2) granulomas in organs

Question 28

What is the defect in Leukocyte Adhesion deficiency? (LAD)

Answer 28

LFA-1 is absent

Question 29

What happens with phagocytes in LAD?

Answer 29

they can’t go to site of infection

Question 30

what infections are seen in LAD deficiency?

Answer 30

tissue-eroding infections in skin and gums

Question 31

what is the defect in Hereditary Angioedema?

Answer 31

you have low C1 inhibitor

Question 32

what is the characteristic symptom in Hereditary Angioedema?

Answer 32

swelling of trachea and bronchus

Question 33

what complement pathway cannot be controlled in Herediatry Angioedema?

Answer 33

Classical pathway

Question 34

what is mutated in Chediak-Higashi syndrome?

Answer 34

LYST

Question 35

what cannot be formed in Chediak-Higashi?

Answer 35

the phagolysosoma

Question 36

What cell is affected and why in Chediak-Higashi?

Answer 36

Cytotoxic T cells because they can’t secrete their granules

Question 37

what 3 symptoms are seen in Chediak-Higashi?

Answer 37

1) Albinism
2) peripheral neuropathy
3) pyogenic infections