Immunology

Question 1

What is Kawasaki disease and what patient population is affected?

Answer 1

Multi-system vasculitis that affects Asian heritage children < 5 years old

Question 2

What is the pneumonic to remember the signs of Kawasaki disease?

Answer 2

CRASH and Burn

Question 3

Symptoms of Kawasaki Disease?

Answer 3

CRASH and Burn
- Conjunctivitis
- Rash
- Adenopathy (unilateral)
- Strawberry tongue
- Hands/feet are red/swollen/flaking
- Fever for > 5 days

Question 4

Symptoms of Kawasaki Disease?

Answer 4

CRASH and Burn
- Conjunctivitis
- Rash
- Adenopathy (unilateral)
- Strawberry tongue
- Hands/feet are red/swollen/flaking
- Fever for > 5 days

Question 5

What are children with Kawasaki disease at risk for?

Answer 5

Coronary A. Aneurysm/MI

Question 6

What 2 changes may be seen on labs with Kawasaki disease?

Answer 6

Elevated ESR and platelet count

Question 7

What 2 things are used in the treatment for Kawasaki disease?

Answer 7

Aspirin
IVIG – prevents Coronary A. Aneurysm

Question 8

Aspirin is part of the treatment for Kawasaki disease, although it is rarely given to children. Why?

Answer 8

Reye Syndrome

Question 9

What is Reye syndrome?

Answer 9

Aspirin in children
–> Mitochondrial injury and liver failure
–> Hyperammonemia and Encephalopathy

Question 10

What immunologic change is present with Bruton X-linked Agammaglobulinemia?

Answer 10

Low levels of B cells and immunoglobulins

Question 11

When will CVID present in life? What defect is present?

Answer 11

Presents later in life > 15 years of age
– Combined B and T cell defect to cause low Ig levels

Question 12

IgA deficiency often presents how? Why?

Answer 12

Anaphylactic reaction upon administration of transfusion because of the patient’s Anti-IgA antibodies!

Question 13

What causes Hyper-IgM syndrome?

Answer 13

Absent CD40 ligand = NO class switching for the B cells

Question 14

If a person is missing a CD40 ligand, what syndrome will they have?

Answer 14

Hyper-IgM

Question 15

How is DiGeorge Syndrome inherited?

Answer 15

Autosomal Dominant

Question 16

What is the pneumonic to remember the signs of DiGeorge Syndrome?

Answer 16

CATCH 22

Question 17

Symptoms of DiGeorge syndrome?

Answer 17

CATCH 22
- Cardiac anomalies
- Abnormal facies
- Thymic aplasia
- Cleft palate
- Hypocalcemia
- Deletion of 22q11

Question 18

What immunologic change will be present with DiGeorge syndrome and why?

Answer 18

Low T cells because of the thymic aplasia

Question 19

Since DiGeorge syndrome has low levels of T cells, what types of infections are they more at risk for?

Answer 19

Viruses
Fungi
Pneumocystis Jirovecii

Question 20

What mutation causes Ataxia-Telangiectasia?

Answer 20

Mutation in a gene responsible for repair of dsDNA breaks

Question 21

If a person cannot repair dsDNA breaks, what symptoms will they have?

Answer 21

Cerebellar ataxia
Oculocutaneous telangiectasias

Question 22

How is SCID inherited?

Answer 22

X-linked recessive – boys only

Question 23

What defects cause SCID?

Answer 23

Stem cell maturation defect and low levels of Adenosine Deaminase

Question 24

What immunologic change is present with SCID?

Answer 24

LOW levels of B AND T cells

Question 25

How is Wiskott - Aldrich inherited?

Answer 25

X-linked recessive

Question 26

What immunologic changes are present with Wiskott-Aldrich?

Answer 26

Low levels of platelets and IgM

Question 27

What pneumonic is used with Wiskott-Aldrich?

Answer 27

WIPE

Question 28

Signs of Wiskott-Aldrich?

Answer 28

WIPE - Wiskott-Aldrich - Infections - Purpura/bleeding - Eczema

Question 29

What is deficient with Chronic Granulomatous Disease (CGD)?

Answer 29

Deficient Superoxide (NADPH) production

Question 30

What 2 tests are used to diagnose Chronic Granulomatous Disease?

Answer 30

Dihydrorhodamine test Nitroblue Tetrazolium test

Question 31

What are the 2 main signs of Leukocyte Adhesion Deficiency?

Answer 31

Absent pus Omphalitis = delayed separation of the umbilical cord

Question 32

What are the signs of Chediak-Higashi?

Answer 32

Albinism Peripheral neuropathy Neutropenia

Question 33

If a child is albino, has peripheral neuropathy and recurrent infections, what do they have?

Answer 33

Chediak-Higashi

Question 34

Those with Chediak-Higashi are at risk for what types of infections?

Answer 34

Pyogenic bacteria -- staph aureus/s. pyogenes

Question 35

What will be seen in the neutrophils with Chediak-Higashi?

Answer 35

Giant granules

Question 36

What pneumonic is used to remember Job syndrome?

Answer 36

FATED

Question 37

Signs of Job syndrome?

Answer 37

FATED - Facies are coarse - Abscesses - Teeth are retained - Elevated IgE/Eosinophilia - Dermatologic conditions

Question 38

Signs of Job Syndrome?

Answer 38

FATED - Facies are coarse - Abscesses - Teeth are retained - Elevated IgE - Dermatologic conditions

Question 39

How is Hereditary Angioedema inherited?

Answer 39

Autosomal Dominant

Question 40

What is deficient with Hereditary Angioedema?

Answer 40

C1 Esterase Inhibitor is deficient

Question 41

What is the treatment for Hereditary Angioedema?

Answer 41

C1 inhibitor

Question 42

What is the patient unable to form with Terminal Complement Deficiency (C5-C9)?

Answer 42

Membrane Attack Complex (MAC)

Question 43

What are those with a Terminal Complement Deficiency at an increased risk for?

Answer 43

Neisseria infections

Question 44

What are those with a Terminal Complement Deficiency at an increased risk for?

Answer 44

Neisseria infections

Question 45

Many of the immunologic disorders are treated with what 2 things?

Answer 45

Prophylactic antibiotics + IVIG

Question 46

What 2 medications should be given for Chronic Granulomatous Disease prophylaxis?

Answer 46

TMP-SMX Itraconazole