Immunodeficiency

Question 1

B cell immunodeficiency dz

Answer 1

• Brutons
• IgA def
• Hyper IgM

Question 2

T cells immunodeficiency dz

Answer 2

digeorge

HIV( aquired)

Question 3

phagocytosis dz 3

Answer 3

• chronic granulomatous dz
• leukocyte adhesion def
• chediac hidashi

Question 4

3 dz that are from problem with both T and B cells

Answer 4

wiskott aldrich
Ataxic telectantasia
SCID mega aids w/o virus

Question 5

Complement dz

Answer 5

C1 esterase deficiency (edema)

C9 and C5 mac attack predispose to infxn

Question 6

when think pt has a immuno deficiency?

Answer 6

• FTT with diarrhea
• recurrent infxn w/o immunity
• severe infection when typically not severe
• unusual pathogens

Question 7

when do immuno deficiency dz show up?

Answer 7

after 6 months once mom’s antibodies wear off and baby isnt making their own

Question 8

workup first two steps

Answer 8

1. CBC with diff
2. quantitative IgG level (show you G,A,M)
3. then dz specific

Question 9

big idea main immunodef treatment goals

Answer 9

1. avoid antigens kid cant fight off

2. give them what they dont have

Question 10

Bruton’s aka

Answer 10

X linked A Ig -enemia

Question 11

Brutons def

Answer 11

x linked dz
no immunoglobulins
B cells, Brutons, Boys

Question 12

6 mo old sinopulmonary infections, boy

Answer 12

Brutons XLA

Question 13

Brutons workup

Answer 13

1. CBC normal
2. quant Ig: zero
3. flow cytometry shows no B cells
4. confirm dx with RTK gene

Question 14

burton’s tx

Answer 14

schedule Iv IG treatments lifetime

• or BM transplant yet usually too severe

Question 15

combined variable immunodeficiency def

Answer 15

mild form of burtons

Question 16

recurrent sinopulmonary dz in older kid… think?

Answer 16

CVID

Question 17

CVID workup

Answer 17

CBC normal
QIG decrease in 2/3 of the Ig

less severe burtons

Question 18

CVID tx

Answer 18

no BM transplant necessary

schedule IV Ig

Question 19

IgA deficieny patho

Answer 19

low IgA cannot fight mucosal infections

Question 20

sinopulmonary infxn
GI bugs
or asx till get blood transfusion then anaphylaxis

Answer 20

IgA deficiency

Question 21

IgA dx

Answer 21

cbc normal

quant low IgA yet higher igM and IgG

Question 22

IgA tx

Answer 22

• no tx
• watch out for anaphylaxis for blood transfusions
• screen future blood transfusions and remove IgA (looks like a foreign protein to body = anaphylaxis)

Question 23

HyperIgM

Answer 23

B cell deficiency cannot convert IgM (nonspecific) to IgG (specific)

Question 24

hyper IgM workup

Answer 24

cbc normal

quant Ig: low IgA, low IgG, high IgM

Question 25

hyper IgM tx

Answer 25

none

Question 26

XLA vs CVID

Answer 26

young 6 mo vs older child / teen

Question 27

Digeorge syndrome caused by

Answer 27

22q11.2 deletion gene problem of 3rd pharyngeal pouch

Question 28

Digeorge sx

Answer 28

- wide spaced eyes - low set ears - absent thymic shadow on xray - small face

Question 29

digeorge common infxn

Answer 29

fungal infxn or PCP pneumonia

Question 30

Dx digeorge

Answer 30

clinical | Cbc: reduced absolute lymphocyte count

Question 31

Digeorge tx

Answer 31

tmp/smx prophylaxis PCP IvIG bridge to thymic transplant

Question 32

digeorge f/u

Answer 32

watch out for hypocalcemia due to loss of PTH hormone sx: seizure, tetany

Question 33

wiskott aldrich patho

Answer 33

x linked - boys

Question 34

ezema, low plts, normal infections boy

Answer 34

wiskott aldrich

Question 35

WA dx

Answer 35

CBC: low WBC, low plt QIgG: big IgM and IgG

Question 36

WA tx

Answer 36

bone marrow transplant

Question 37

ataxia, telectantisia, ID, starts prior age 5

Answer 37

Ataxia telangectasia

Question 38

AT f/u

Answer 38

increase risk of: - leukemia - lymphoma - sensitive to radiation (including xrays)

Question 39

bubble boy

Answer 39

SCID

Question 40

SCID patho

Answer 40

no immune sx - no b cells - no t cells - def adenosine deoninate

Question 41

ID immediately post birth, any exposure = infxn

Answer 41

SCID | like mega aids but HIV negative

Question 42

SCID dx

Answer 42

CBC: low WBC QIG: zero

Question 43

SCID tx

Answer 43

isolation tmp/smx BM transplant

Question 44

chronic granulomatis dz pathophys

Answer 44

no respiratory burst | macrophage problem ..can eat bacteria but cannot kill it if it is catalase +

Question 45

staph abscesses

Answer 45

think chronic granulomatis dz

Question 46

CGD dx

Answer 46

nitro blue CBC: increased WBC QIG: elevated IGM, IGG

Question 47

CGD tx

Answer 47

BMT

Question 48

leukocyte adhesion def

Answer 48

WBC cannot get out of the blood stream to get onto cell wall etc.

Question 49

high fever, high WBC yet no pus, delayed seperation of the cord

Answer 49

LAD

Question 50

LAD tx

Answer 50

bone marrow transplant

Question 51

CH

Answer 51

autosomal recessive dz

Question 52

giant granules in neutrophils PMN

Answer 52

dx

Question 53

CH associated with

Answer 53

neuropathy albinoism neutropenia

Question 54

complement

Answer 54

C1 esterase def | angioedema

Question 55

pt with angioedema h/o complement def

Answer 55

give FFP

Question 56

pt with neisseria

Answer 56

think C5-9 mac attack