immune deficiency syndromes

Question 1

x linked agammablobulinemia path

Answer 1

failure of B cell precursors to become B cells

Question 2

x linked agammaglobulinemia caused by defects in

Answer 2

bruton tyrosine kinase

Question 3

key findings in x linked agammaglobulinemia

Answer 3

1. absent mature B cells
2. underdeveloped germinal centers
3. absence of all antibodies

Question 4

selective IgA syndrome due to

Answer 4

defect IgA B cells

Question 5

in selective IgA syndrome blood transfusions leads to

Answer 5

anaphylaxis

Question 6

special features of selective IgA syndrome

Answer 6

positive B HCG test

Question 7

common variable immunodeficiency due to

Answer 7

defect B cells maturation and loss of plasma cells & antibodies

Question 8

common variable immunodeficiency labs

Answer 8

normal B cells, absence of a antibodies

Question 9

key difference of common variable immunodef

Answer 9

not x linked, later onset

Question 10

B cells are only decreased in

Answer 10

x linked agammaglobulinemia

Question 11

thyme aplasia is due to

Answer 11

failure of 3rd/4th pharyngeal pouch to form

Question 12

digeorge syndrome due to

Answer 12

22q11 chromosome deletion

Question 13

classic sxs of digeorge

Answer 13

catch 22
cardiac abnormalities
abnormal facies
thyme aplasia
cleft palate
hypocalcemia
22 chromosome

Question 14

digeorge syndrome CXR

Answer 14

no thymic shadow

Question 15

what is seen in digeorge syndrome?

Answer 15

underdeveloped T cell structures including paracortex in LN and peri-arteriolar sheaths in spleen

Question 16

hyper IgE syndrome due to defective

Answer 16

Th17 cells and loss of attraction of neutrophils

Question 17

hyper IgE has over production of __ & loss of __

Answer 17

IgE & INF gamma

Question 18

classic findings in hyper IgE

Answer 18

deformed face/teeth
diffuse rase
cold skin abscesses
recurrent infections without fever

Question 19

clinical mucocutaneous candidiasis due to defect in

Answer 19

regulator AIRE genes

Question 20

aire function 1: associated iwht

Answer 20

dectin 1 receptor

Question 21

dectin 1 response to

Answer 21

candida antigens

Question 22

aire function 2: promotes

Answer 22

self antigen production in thymus

Question 23

sxs of chronic mucocutaneous candidiasis

Answer 23

candida infections
endocrine dys

Question 24

__ cells are imp for mucosal defense of candida

Answer 24

T cells

Question 25

severe combined immunodeficiency loss of

Answer 25

cell mediated & humoral immunity

Question 26

SCID shows loss of

Answer 26

thrymic shadow & germinal centers

Question 27

SCID can be caused by

Answer 27

adenosine deaminase def

Question 28

classic case of scid

Answer 28

infant with recurrent infections
absent thymic shadow
normal calcium/heart

Question 29

adenosine deaminase def mech

Answer 29

excess dATP inhibits ribonucleotide reductase so DNA cannot be formed

Question 30

ataxis telangiectasia

Answer 30

ATM gene chromosome 11

Question 31

hyper IgM is due to

Answer 31

class switching disorder due to defect CD40L

Question 32

wiskott Aldrich syndrome due to

Answer 32

x linked disorder with WASp absent

Question 33

WASp is necessary for

Answer 33

T cell cytoskeleton maintenance

Question 34

classic case of wiskott Aldrich syndrome

Answer 34

male
eczema
bleeding/petechiae (low platelets)
recurrent infections

Question 35

leukocyte adhesion def due to

Answer 35

defective neutrophil/lymphocyte migration

Question 36

leukocyte adhesion def is due to autosomal recessive defect in

Answer 36

CD18 causing issues with integrins (rolling phase)

Question 37

key feature of leukocyte adhesion def

Answer 37

delayed separation of umbilical cord

Question 38

chediak higashi syndrome due to

Answer 38

microtubule dys causing failure of lysosomes to fuse with phagosomes

Question 39

chediak higashi gene mut

Answer 39

LYST (lysosomal trafficking regulator)

Question 40

other common sxs of chediak higashi

Answer 40

oculocutaneous albinism (microtubules not presents to transport pigment)

Question 41

chronic granulomatous disease loss of function of

Answer 41

NADPH oxidase

Question 42

phagocytes use NADPH to generate

Answer 42

hydrogen peroxide for respiratory burst

Question 43

five organisms that cause almost all of CGD infections

Answer 43

1. staph aureus
2. pseudomonas
3. serratia
4. nocardia
5. aspergillus

Question 44

what tests for CGD

Answer 44

nitro blue tetrazolium tests (in absence of NADPH cells do NOT turn blue)