Immunodeficiency

Question 1

B cell related immunodeficiency

Answer 1

XLA, CVID, IgA def, Hyper IgM

Question 2

B & T cell immun deficiency

Answer 2

SCID, Ataxia Telangectasia, Wiskott Aldrich

Question 3

T cell immunodeficiency

Answer 3

Digeorge syndrome

Question 4

Phagocytosis issue related immunodeficiency

Answer 4

Chronic granulomatous dz, LAD, Chediak Higashi

Question 5

Complement related immun deficiency

Answer 5

C1 esterase def, C5-C9 MAC

Question 6

What gene is defective in XLA

Answer 6

RTK gene

Question 7

Tx for XLA

Answer 7

scheduled IgG…poss BM transplant

Question 8

Quantitative Ig in XLA

Answer 8

no Ig A,G,M

Question 9

Quantitative Ig chediak higashi

Answer 9

hypergammaglobulinemia

Question 10

Quantitative Ig in CVID

Answer 10

IgG is low, IgA and IgM are lower on the normal scale

Question 11

Tx for CVID

Answer 11

scheduled IgG

Question 12

Path of Hyper IgM

Quant Ig’s

Answer 12

IgM cannot be converted into IgG

high IgM, low A&G

Question 13

gene associated with digeorge

Answer 13

22q11, 3rd pharyngeal arch

Question 14

clinical features of XLA

Answer 14

male

start sinopulm infxns @ 6mos

Question 15

clinical features of IgA def

Answer 15

sinopulm infxns, GI bugs

When giving blood, may go from Asx to Anaphylactic

Question 16

Physical exam of a digeorge pt

Answer 16

wide spaced eyes
low set ears
absent thymic shadow
small face

Question 17

What is special about CBC findings in B cell related immunodeficiencies??

Answer 17

nothing!!! because they are all presenting with normal CBC’s

Question 18

CBC shows what in Digeorge?

Answer 18

Low lymph count

Question 19

clinical features of digeorge

Answer 19

recurrent fungi/PCP infections

Question 20

Tx for Digeorge

Answer 20

TMP-SMX prophylaxis, IVIG bridge, Thymic transplant

Question 21

What is the triad for Wiskott Aldrich?

Answer 21

Eczema, dec platelets, common infections

Question 22

Wiskott Aldrich genetics

Answer 22

X-linked, more likely a male

Question 23

Tx for WA?

Answer 23

BMT

Question 24

Tx for SCID

Answer 24

Isolate, TMP-SMX, BMT

Question 25

CGD what deficiency?

Answer 25

Can’t phagocytose…Mphage problem

Can’t fight cat+ bacteria (staph abscesses)

Question 26

Clinical features of LAD

Answer 26

Fever, no pus, delayed separation of cord