Table 1 Subject characteristics.

Age (years), initial

5

25

20

4

Age (years), follow-up

14

27

22

Sex

Male

Male

Male

Male

AP3B1 mutations

c.1525C>T [p.R509X]

IVS11-1G>C

IVS11-1G>C

IVS10 + 5G>A

c.195G>T [p.E659X]

c.1739T>G [p.L580R]

c.1739T>G [p.L580R]

IVS10 + 5G>A

Tobacco use

No

Yes

No

No

ANC, initial

3,800^a

795

568

720^a

ANC, follow-up

4,354^a

1,030

611

Infections

Enterococcal sepsis Skin abscesses Viral pneumonias Otitis media Varicella

Otitis media URIs Cellulitis Viral pneumonias

Otitis media URIs

Pseudomonas bacteremia Necrotizing fasciitis