Immunodeficiencies

Question 1

X-linked agammaglobulinemia enzyme deficiency

Answer 1

Bruton tyrosine kinase

Question 2

recurrent bacterial and enteroviral infections after 6 mo
low Ig levels
absent/small lymph nodes and tonsils

Answer 2

X-linked agammaglobulinemia

Question 3

airway and GI infections, AI disease, atopy, anaphylaxis to blood tranfusions can occur

Answer 3

selective IgA deficiency

Question 4

acquired in 20s-30s, inc risk of AI disease, bronchiectasis, lymphoma, sinopulmonary infections
low plasma cells and Igs

Answer 4

common variable immunodeficiency

Question 5

tetany, recurrent viral/fungal infections, conotruncal abnormalities

Answer 5

DiGeorge syndrome

Question 6

disseminated mycobacterial and fungal infections

May present after administration of BCG vaccine

Answer 6

IL-12 R deficiency

Question 7

coarse facies, cold abscesses, retained primary teeth, eczema

Answer 7

Job syndrome

hyper-IgE

Question 8

noninvasive candida albicans infections of the skin and mucous membranes

Answer 8

chronic mucocutaneous candidiasis

T-cell dysfunction

Question 9

Failure to thrive, chronic diarrhea, thrush, recurrent viral, bacterial, fungal, protozoal infections

Answer 9

SCID

Question 10

SCID enzyme deficiency

Answer 10

adenosine deaminase

Question 11

cerebellar defects, spider angiomas, IgA deficiency

with poor smooth persuit

Answer 11

ataxia-telangiectasia

Question 12

defect in ataxia-telangiectasia

Answer 12

ATM gene–> DNA double stranded breaks –> cell cycle arrest

Question 13

Severe pyogenic infections early in life

Pnuemocystis, cryptosporium, CMV infections are common

Answer 13

hyper IgM syndrome

Question 14

Defect in hyper-IgM syndrome

Answer 14

defective CD40L on Thelper cells = class switching defect 
X-linked recessive

Question 15

Thrombocytopenic purpura, eczema on the trunk, recurrent infections

Answer 15

Wiskott-Aldrich syndrom

Question 16

Wiskott-Aldrich syndrome defect

Answer 16

mutation in WAS (X-linked)
T cells can’t recognize actin cytoskeleton
inc IgE, IgA

Question 17

Delayed separation of the umbilical cord

• recurrent bacterial skin and mucosal inf
• absent pus formation
• impaired wound healing

Answer 17

Leukocyte adhesion deficiency type 1

Question 18

recurrent pyogenic inf by Staph and Strep
parital albinsim, peripheral neuropathy
progressive neurodegeneration

Answer 18

Chediak-Hagashi syndrome

Question 19

increased susceptibility to catalse + organisms

Answer 19

chronic granulomatous disease

Question 20

chronic grnaulomatous disease defect

Answer 20

NADPH oxidase defect: can’t make reactive oxygen species and absent respiratory burst in neutrophils
X-linked

Question 21

What test can diagnose chronic granulmoatous disease?

Answer 21

nitroblue tetrazolium test is negative: doesn’t turn blue

Question 22

What embryologic origin fails to develop in DiGeorge syndrome?

Answer 22

3rd and 4th pouches

no thymus or parathyroid glands

Question 23

What is the most common immunodeficiency?

Answer 23

selective IgA def

Question 24

What can treat chronic mucocutaneous candidiasis?

Answer 24

ketoconazole

Question 25

What is the only immune defense in SCID?

Answer 25

NK cells

Question 26

Name the X-linked immunodeficiencies

Answer 26

wiskott-aldrich
bruton agammaglobulinemia
chronic granulomatous dz
hyper IgM sundrome