Phagocyte dysfunction, general

Consider phagocyte disorders with systemic infections associated with skin abscesses usually due to catalase-positive bacteria (Staph aureus, E. coli, Serratia marscescens)

Disease:

1. Hyper IgE Syndrome
2. Leukocyte Adhesion Deficiency
3. Chediak-Higashi syndrome
4. Chronic granulomatous disease

Defect

1. impaired chemotaxis
2. lack adhesion glycoproteins
3. degranulation effect
4. NADPH oxidase deficiency

Presentation

1. chronic dermatitis, skin abscesses (s. aureus), coarse facial features
2. leukocytosis, absence of pus, poor wound healing, delayed umbilical cord separation
3. oculocutaneous albinism, silvery hair, multiple infections
4. boy with liver abscess

Test

1. High IgE, eosinophilia
2. flow cytometry
3. large cytoplasmic granules
4. NBT, DHR

CHLA Board Review 2005