Pathology EMQ template.

Name: Graeme Nimmo

Theme: Primary Immune Deficiencies 1

 

OPTION LIST

 

A

Abnormal CD40-CD40L Interaction

I

Maternal HIV Infection

B

Chromosome 22q11 Deletion

J

Mutation in the beta2-microglobulin Gene

C

Decreased Plasma 5-hydroxytryptamine

K

Mutation in the BTK Gene

D

Decreased Plasma C1

L

Mutation in the common gamma-chain of Cytokine Receptor

E

Decreased Plasma C3

M

Overproduction of Adenosin Demainase

F

Lack of IgA Production

N

 

G

Lack of IgE Production

O

 

H

Malformation of the Second and Third Pharyngeal Pouches

P

 

 

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1. A 39-year-old lady presents with acute onset difficulty in breathing.  She is afebrile with severe airway obstruction and an audible inspiratory wheeze heard from the end of the bed.  She has had similar episodes since childhood.  Her mother and brother experience similar episodes.  There is no history of severe or recurrent infections. FBC is normal.

 

 

2. A 10-year-old boy presents with a temperature of 38.5 C and pharyngeal erythema with exudate.  He has had multiple infections in the past 10 years including PCP, Strep otitis media, and Pseudomonas UTIs.  Laboratory studies:  Hb 9.1 g/dL, platelets 130X10^9/L, WCC 3.4X10^9/L; serum IgG 88mg/dL, serum IgM 721 mg/dL, serum IgA is undetectable.  Red cells demonstrate polychromasia.

 

 

3. A 35-year-old gentleman has a history of mild upper respiratory infections.  He has also had diarrhoea for most of his life, but not sever enough to cause malabsorbtion or weight loss.  He recently received a blood transfusion following a RTA in which there was significant blood loss.  He experienced an anaphylactic reaction immediately following the transfusion.

 

 

4. A 4-year-old boy is diagnosed with another pneumonia with a positive S. pneumonia culture.  He has had almost continuous infections since he was 6 months old including otitis media and impetigo.  He has also had diarrhoea, with G. lamblia cysts identified in stool specimen.  An older brother with a similar condition died from overwhelming infections.   The boy’s two sisters and both parents are normal.

 

 

5. A 3-year-old boy has had recurrent infections of the respiratory, gastrointestinal, and urinary tracts since birth.  Infectious agents have included Candida, PCP, P. aeruginosa, and CMV.  Despite aggressive antibiotic and antifungal treatment he died at age 5 months.  On autopsy, lymph nodes are small with no germinal centres.  The thymus, Peyer’s patches, and tonsils are hypoplastic. There is a family history of other males with similar findings.

 

 

 

ANSWERS

1. D

2. A

3. F

4. K

5. L