Immunology/ID

Question 1

Presentation of Primary immunodeficiency:

What 3 recurrent infections?

Answer 1

1. OM
2. Sinusitis
3. PNA

(“POMS”)

Question 2

Primary Immunodeficiency: Recurrent OM/Sinusitis/PNA are infected w/ what type of bacteria

Answer 2

encapsulated bacteria

Question 3

T/F: IgA Deficiency is MC

Answer 3

true

Question 4

Dx of IgA deficiency?

Answer 4

Low IgA

normal IgG/IgM

Question 5

Age of diagnosis of IgA Deficiency?

Answer 5

>4y/o

Question 6

When should you work up pt for IgA deficiency (3 reasons)

Answer 6

1. Giardiasis
2. Fam hx
3. Celiac Disease

Question 7

• Impaired B cell and T cell and dendrite production
• Impaired Ig production

Answer 7

CVID (Common Variable Immunodeficiency)

Question 8

When does CVID (Common Variable Immunodeficiency) usually present

Answer 8

around puberty

Question 9

What is the 3 criteria for Dx of CVID (Common Variable Immunodeficiency)

Answer 9

1. decreased IgA, IgG, IgM
2. Presence of B cells
3. Poor Vaccine response

Question 10

5 Sxs of CVID?

Answer 10

1. Chronic/recurrent URI/LRTI
2. GI infection
3. Diarrhea, weight loss
4. FTT

5. Atopic Triad

Question 11

How do you tx CVID?

Answer 11

IVIG

Refer

Question 12

Which condition?

• T and B lymphocyte systems
• Death from overwhelming infection w/in first yr of life

Answer 12

SCID (Severe combined Immunodeficiency)

“Bubble Boy”

Question 13

How is SCID inherited?

Answer 13

X linked recessive- males

Question 14

T/F: SCID is part of NB screen

Answer 14

True

Question 15

Which condition

• 1 or more severe infection in 1st few mon (P. jirovecci, Lymphoma)
• +/- ill from live vaccine

Answer 15

SCID (Severe combined immunodeficiency)

Question 16

How do you tx SCID?

Answer 16

Stem Cell Transplant

Question 17

Genetic variation of DiGeorge Syndrome

Answer 17

Deletion of Chromosome 22

Question 19

Which syndrome is the Mose prevalent microdeletion syndrome

Answer 19

DiGeorge Syndrome

Question 20

• Cardiac defects (TOF, TGA)
• Cleft Palate
• Hypocalcemia (Parathyroid hypoplasia)
• Cyanosis (b/c of cardiac defects)

Answer 20

DiGeorge Syndrome

Question 21

• X-linked
• WASp Protein (boys)

Answer 21

Wiskott-Aldrich Syndrome

Question 22

Clinical presentation

• Susceptibility to infection
• Thrombocytopenia
• Eczema
• Malignancies

Answer 22

Wiskott-Aldrich Syndrome

Question 23

How do you manage Wiskott-Aldrich Syndrome? (3)

Answer 23

• Prophylactic Abx/antiviral
• Platlet transfusion PRN
• Ig if deficient

Question 24

How do you tx Wiskott-Aldrich Syndrome?

Answer 24

SCT is curative

Question 25

What is the 1st sign of Ataxia-Telangiectasia

Answer 25

• Cerebral ataxia
• Children walk at nml age but don’t develop fluid gait (are wobbly)

Question 26

Which condition:

• Don’t develop fluid gait, wobbly
• Saccades
• Nystagmus
• Telangiectasias
• Swallowing probs
• Malignancy (lymphoma)

Answer 26

Ataxia-Telangiectasias

Question 28

Management of Ataxia-Telangiectasias (3)

Answer 28

• Watch for aspiration
• Vaccinate if make Ig
• Manage each disease

Question 29

How is Ataxia-Telangiectasias inherited

Answer 29

Autosomal recessive