Laboratory Immunology

Question 1

Primary vs secondary immunodeficiencies

Answer 1

Primary: single-gene disorders
Secondary: acquired, caused by non-genetic or external agents

Question 2

True or false: Genetic diseases can start at any age!

Answer 2

True! Patients may present for the first time at any given age with a genetic disease.

Question 3

What is SCID?

Answer 3

Severe combined immune deficiency, one of the most severe forms of primary immunodeficiencies

Question 4

Why are post-natal screening programs for SCID so important?

Answer 4

It is an extremely severe disease. If patients do not obtain a transplant within 2 years of life, they have a 100% chance of death.

Question 5

What are the diagnosis issues encountered with inborn errors of immunity? (2)

Answer 5

• 70-90% of IEIs remain undiagnosed
• Diagnosis of IEIs is often delayed (5-9 years)

Question 6

Who should be investigated for IEIs (criteria)? (10)

Answer 6

1. Four or more new ear infections within a year
2. Two or more serious sinus infections within one year
3. Two or more months on antibiotics, with little effect
4. Two or more pneumonias within a year
5. Failure to thrive (infant does not gain weight or grow normallY)
6. Recurrent deep skin or organ abscesses
7. Persistent thrush in mouth or fungal infection of skin
8. Need for IV antibiotics to clear infections
9. Two or more deep-seated infections including septicemia (blood poisoning or sepsis)
10. Family history of primary immunodeficiency

Question 7

See your notes and slides for more!