Innate Immunodeficiencies

Question 1

Leukocyte Adhesion Deficiency (cell abnormality, immune defect, diseases)

Answer 1

-Defective CD18
-Phagocytes can’t migrate into tissues — Severe neutrophilia
Clinical Manifestations:
1) Recurrent infections of mouth, intestines, respiratory tracts (ANY mucus lining)
2) Wound areas heal slowly with scars
3) DELAYED detachment of umbilical cord

EARLY DEATH!!!

Question 2

Chronic Granulomatous Disease (CGD)

cell abnormality, immune defect, diseases

Answer 2

Most frequent innate deficiency, more common in men

• Defective NADPH oxidase (no O2 for respiratory burst)
• Can’t kill phagocitized bacteria
• Chronic bacteria/fungal infection

Question 3

Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency

cell abnormality, immune defect, diseases

Answer 3

X-LINKED

• Defective G6PD, bad respiratory burst
• Can’t kill phagocitized bacteria
• Often Asymptomatic / Chronic bacteria/fungal infection
• Granuloma formation

Also hemolytic anemia, since glycolysis is only thing to occur in RBCs

Question 4

Myeloperoxidase Deficiency

Answer 4

• Defective myeloperoxidase (Hypochlorite can’t form)
• Can’t make ROS for killing
• Can’t kill phagocitized bacteria
• Chronic bacteria/fungal infection

Question 5

Chediak-Higashi Syndrome

Answer 5

1) Defective vesicle fusion/poor phagocytosis – due to LARGE, BLUE GRANULES —Can’t fuse endosome with lysosome

2) Biphasic
- First Phase = infection susceptibility
- Second Phase= hepatosplenomegaly (lymphoproliferative syndrome)

CLINICAL:

1) Recurrent bacterial infections, pyogenic granulomas (pus wound from delayed diapedesis)
2) Albinism
3) patients wheelchair bound and die
4) No NK activity