Immunology

Question 1

Digeorge features

Answer 1

Cardiac
Abnormal facirs
Thymus hypoplasia
Cleft
HypoCa
22q11
Low CD3

Question 2

Prolonged low igG with good vaccine response

Answer 2

Transient hypogammaglobulinemia of infancy

Question 3

Normal IG but poor function
Does not respond to vaccines

Answer 3

Specific antibody deficiency

Question 4

Recurrent infections
Autoimmune diseases
HSM
Low IgG and poor vaccine response

Answer 4

CVID

Question 5

Recurrent infections
Anaphylaxis to IVIG or blood
Celiac/Hashimoto

Answer 5

Selective IgA deficiency

Question 6

The current infection
PJP
HSM
CD40L

Answer 6

Hyper IgM

Question 7

Recurrent infections
Low IGs
BTK gene

Answer 7

Bruton
(XLA)

Question 8

EBV
Low IG
Aplastic anemia/HLH
Hepatitis > Necrosis

Answer 8

Duncan (Lymphoproliferative)

Question 9

Recurrent bleed
Chronic otitis media
Leukemia
High IgE/A, low IgM
Small platelet

Answer 9

WAS

Question 11

Recurrent infections (PJP and CMV)
Diarrhea
FTT
Eczema and thrush

Answer 11

SCID

Question 12

Alopecia
Eosinophilia
Diarrhea
HSM
RAG1/2

Answer 12

Omenn

Question 13

Skeletal abnormality
Low ADA in RBC
High blood/urine deoxyadenosine

Answer 13

ADA

Question 14

Ataxic telangectasia risk of what

Answer 14

Leukemia

Question 15

Ataxic telangectasia lab findings

Answer 15

Low IgA
Normal CD3
High AFP

Question 16

Short
Telangectasia
Facial rash on sun exposure

Answer 16

Bloom

Question 17

Recurrent skin abcess
Delayed cord separation
Poor healing
Absent CD18

Answer 17

LAD

Question 18

Catalase positive organisms
DHR test
Abnormal NADPH
Recurrent skin abscess
Lung/GI/LN infections

Answer 18

CGD

Question 19

Fulminant EBV
Albinism
ID
Giant granules in neutrophils

Answer 19

Checiak Higashi

Question 21

Pneumatocele
Skin abcess, Cold abscess
High IgE

Answer 21

Hyper IgE
(Job syndrome)