Respiratory

Question 1

What organisms may cause phagocyte deficiencies?

Answer 1

Staph aureus, Burkhholderior cepacia, TB, fungi

Question 2

How is incidence of severe infection after stem cell transplant related to number of circulating neutrophils?

Answer 2

indirectly proportionate

Question 3

Despite all precautions, how many patients with a low neutrophil count will experience a severe infection post stem cell transplant?

Answer 3

1 in 4

Question 4

Describe phagocyte deficiency in terms of neutrophils.

Answer 4

-Stem cells can fail to differentiate properly into neutrophils (Primary defect: recticular dysgenesis
Secondary defect: after stem cell transplantation
-Neutrophils can fail to mature
(Kostmann syndrome: severe congenital neutropaenia
or Cyclic neutropaenia
episodic neutropaenia every 4-6 weeks)

Question 5

What type of disorder in Kostmann syndrome?

Answer 5

rare congenital autosomal recessive disorder

Question 6

What growth factor can assist maturation of neutrophils?

Answer 6

Granulocyte colony stimulating factor (G-CSF

Question 7

What causes Leukocyte adhesion deficiency and what does it result in?

Answer 7

• genetic defect in leucocyte integrins (CD18)

- Results in failure of neutrophil adhesion and migration

Question 8

What are Toll like receptors, Scavenger receptors and Lectin receptors?

Answer 8

pathogen recognition receptors

Question 9

May pathogen recognition receptors exhibit genetic polymorphism?

Answer 9

Yes (mostly does not cause signifigant disease)

Question 10

Do defects in opsonin tend to cause signifigant disease?

Answer 10

No

Question 11

What is a functional defect of phagocytosis?

Answer 11

the defect is not in the phagocytes themselves but in other components of immune response

Question 12

What is Chronic granulomatous disease?

Answer 12

Failure of oxidative killing mechanisms

Question 13

May chronic granulomatous disease cause hepatosplenomegaly?

Answer 13

Yes

Question 14

What investigation should be carried out for chronic granulomatous disease?

Answer 14

NBT (“nitroblue tetrazolium”) test

Question 15

What infections are associated with gIFN receptor deficiency, IL12 deficiency and
IL12 receptor deficiency?

Answer 15

TB/Salmonella

Question 16

Name an important side effect of anti-TNF therapy.

Answer 16

Reactivation of latent tuberculosis

Question 17

In severe combined immunodeficiency, what protects the neonate in the first 3 months of life?

Answer 17

Maternal IgG

Question 18

What is the mutation in X-linked SCID?

Answer 18

Mutation of component of IL2 Receptor

Question 19

What does this describe: Failure of thymic development, results in T cell immunodeficiency (nowhere for the T cells to mature).
Clinical signs:
Congenital heart defects
Cleft palate
Hypocalcaemia secondary to hypoparathyroidism
Developmental delay
Psychiatric disorders 
Obssesive compulsive disorder
schizophrenia

Answer 19

DiGeorge Syndrome

Question 20

What is the deletion in DiGeorge Syndrome?

Answer 20

Deletion at 22q11

Question 21

What first line investigations should be carried out for T cell deficiencies?

Answer 21

Total white cell count and differential
Serum immunoglobulins and protein electrophoresis
Surrogate marker of functional T cells
Quantitation of lymphocyte subpopulations

Question 22

Are lymphocyte counts generally higher in children or in adults?

Answer 22

children

Question 23

What are the first line investigations for B cell deficiencies?

Answer 23

Total white cell count and differential
Serum immunoglobulins
Serum and urine protein electrophoresis