Immunodeficiencies

Question 1

When do patients with Bruton Agammaglobulinemia present?

Answer 1

At 6 months following maternal IgG loss

Question 2

What infections commonly infect patients with Bruton Agammaglobulinemia?

Answer 2

Encapsulated Pseudemonas, S. pneumo, H. influenza

Recurrent “normal” infections

Question 3

What normal body tissue might be missing in Bruton Agammaglobulinemia?

Answer 3

tonsillar and/or lymphoid tissue

Question 4

CVID is associated with?

Answer 4

Lymphoma and autoimmune conditions

Question 5

Patients with IgA deficiency are at an increased risk of what infection?

Answer 5

Giardia

Question 6

What reaction might occur if patients with IgA deficiency receive blood transfusions or IVIG?

Answer 6

Anaphylaxis due to alien IgA

Question 7

Patients with Ataxia-Telangiectasia are at an increased risk of?

Answer 7

Lymphoma, leukemia, and gastric cancers (poor DNA repair)

Question 8

The defect(s) that result in SCID are?

Answer 8

• Adenosine deaminase deficiency

- stem cell maturation defects

Question 9

What is the treatment for SCID?

Answer 9

BMT or Stem Cell Transplant

Question 10

What is the mutation that cause ataxia-Telangiectasia?

Answer 10

mutation in the enzymes for dsDNA repair

Question 11

What immunodeficiency leads to increased risk for bacterial, viral, fungal, and opportunistic infections?

Answer 11

SCID

Question 12

What treatment option is available for young babies diagnosed with DiGeorge syndrome?

Answer 12

Tx with PCP prophylaxis and IVIG. Cure with Thymic transplant

Question 13

What is the classic triad associated with Wiskott-Aldrich Syndrome?

Answer 13

Thrombocytopenia (purpura)
Infections (recurrent normal infections) due to no B or T cells
Eczema

Question 14

Wiskott-Aldrich Syndrome is at an increased risk of what particular infections?

Answer 14

S. pneumo, S. aureus, and H. influenza

Question 15

Chronic Granulomatous deficiency exists due to what enzyme deficiency in what cell line?

Answer 15

Superoxide in neutrophils

Question 16

What infections are common in chronic granulomatous?

Answer 16

Catalase positive: S. aureus, E. coli, Candida, Klebsiella, Psuedemonas, Serratia, and aspergillus

Question 17

What test would you check in patients with chronic granulomatous?

Answer 17

Negative nitro blue test shows absent respiratory burst

Question 18

What is the common finding in infants with LAD?

Answer 18

delayed umbilical cord separation

Question 19

Patients with LAD will have “cold abscesses” due to? What does “cold abscesses” mean?

Answer 19

• chemotaxis defect

- no pus or inflammation in wounds due to lack of WBC’s into tissues

Question 20

The defect in Chediak-Higashi is due to a defect in?

Answer 20

microtubules causing no lysosomal fusion

Question 21

What findings are seen in Chediak-Higashi Syndrome?

Answer 21

• Partial oculocutaneous albinism
• neutropenia with giant granules in neutrophils during infections
• Peripheral neuropathy

Question 22

What is the mnemonic for Job (hyper IgE) syndrome?

Answer 22

F: coarse facies
A: S. aureus abscesses
T: retained primary teeth 
E: Hyper IgE and peripheral eosinophilia
D: Dermatologic eczema 

Also, post-infectious pneumatoceles

Question 23

Patients with recurrent angioedema have a deficiency of?

Answer 23

C1-esterase inhibitor

Question 24

Patients with C5-C9 deficiency will develop recurrent infections with what bacteria?

Answer 24

Nisseria

Question 25

What would be true of the immunoglobulins in Bruton’s? What other test would be helpful?

Answer 25

All will be low. Do flow cytometry to find absent B-cells

Question 26

For defects in phagocytosis, what is the most common problematic infection?

Answer 26

Staph!

Question 27

How do you treat hereditary angioedema?

Answer 27

FFP