Innate Immunodeficiency

Question 1

Components:

What are the cellular and chemical barriers?

What blood proteins help?

What cells ….?

Answer 1

Skin, mucosa, antimicrobial molecules (e.g. acid, enzymes)

Complement

Phagocytes (Macrophages & neutrophils)
NK cells

Question 2

Phagocyte defects - what is the main cause of this?

Answer 2

Chronic granulomatous disease

Question 3

CGD:

What is defective?

How does this lead to innate deficiency?

Answer 3

NADPH oxidase complex resulting in inability to produce respiratory burst

Failure to kill microbes

Granulomas form

Question 4

CGD:

What is defective?

How does this lead to innate deficiency?

Similar immunodeficient picture:
- Abscess of skin and deep seated infections of lungs, lymph nodes, liver and bones

• Catalase positive bacteria – Staphylococcus, Kebsiella, Serratia & Burkholderia
• Fungal infections – Aspergillus (historically leading fatal cause of death)
• IBD

Answer 4

NADPH oxidase complex resulting in inability to produce respiratory burst

Failure to kill microbes

Granulomas form

Question 5

CGD:

Diagnosis - read

Treatment - how would you manage this?

What is a new Rx that is soon going to be implemented in to clinical practice?

Other neutrophil defects:

• Myeloperoxidase
• G6PD deficiency

Similar presentation but milder - measure enzyme levels for diagnosis

Answer 5

Fluorescent dye used to determine phagocyte oxidase levels

Prophylactic antibiotics
Prophylactic anti-fungals
Interferon Gamma
Bone marrow transplantation

Gene therapy **

Question 6

Neutropenia:

What does cyclical neutropenia?

Answer 6

Persistent or cyclical drop every 21 days – in cyclical neutropenia

Question 7

NK cell defects:

What do NK cells do?

Answer 7

Function to control infection through

• Cytotoxicity
• Cytokine production
• Co-stimulation of other cells