Patient characteristics
. | . | . | . | . | . | Chemotaxis§ . | . | . | NADPH-oxidase activity∥ . | . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient no. (sex)* . | Age, y . | G6PT mutation . | Infection . | G-CSF† . | ANC, ‡ per uL . | C5a . | IL-8 . | PAF . | PMA - glucose . | PMA + glucose . | |||
| 1(F) | 17 | 228G > A 1211-1212 del CT | Stomatitis; IBD | Yes | 540 | 60 | 36 | 49 | 1.4 (1.23) | 1.1 (2.01) | |||
| 2(F) | 9 | Homozygous 1211-1212 del CT | Stomatitis | Yes | 240 | 47 | NT | 21 | 1.6 (1.11) | 1.5 (2.24) | |||
| 3(M) | 8 | 627C > T 1211-1212 del CT | None | No | 190 | 41 | NT | 68 | 1.2 (1.08) | 1.2 (2.12) | |||
| 4(F) | 2.5 | 624G > A 1184G > T | Stomatitis; ENT infections | No | 750 | 28 | NT | 45 | 1.4 (1.38) | 1.5 (1.98) | |||
| 5(M) | 1.2 | 550T > G 1212T > C | Stomatitis; ENT infections; Skin abscesses | No | 760 | 30 | 49 | 44 | 0.9 (1.17) | 1.1 (2.01) | |||
. | . | . | . | . | . | Chemotaxis§ . | . | . | NADPH-oxidase activity∥ . | . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient no. (sex)* . | Age, y . | G6PT mutation . | Infection . | G-CSF† . | ANC, ‡ per uL . | C5a . | IL-8 . | PAF . | PMA - glucose . | PMA + glucose . | |||
| 1(F) | 17 | 228G > A 1211-1212 del CT | Stomatitis; IBD | Yes | 540 | 60 | 36 | 49 | 1.4 (1.23) | 1.1 (2.01) | |||
| 2(F) | 9 | Homozygous 1211-1212 del CT | Stomatitis | Yes | 240 | 47 | NT | 21 | 1.6 (1.11) | 1.5 (2.24) | |||
| 3(M) | 8 | 627C > T 1211-1212 del CT | None | No | 190 | 41 | NT | 68 | 1.2 (1.08) | 1.2 (2.12) | |||
| 4(F) | 2.5 | 624G > A 1184G > T | Stomatitis; ENT infections | No | 750 | 28 | NT | 45 | 1.4 (1.38) | 1.5 (1.98) | |||
| 5(M) | 1.2 | 550T > G 1212T > C | Stomatitis; ENT infections; Skin abscesses | No | 760 | 30 | 49 | 44 | 0.9 (1.17) | 1.1 (2.01) | |||
M indicates male; F, female.
G-CSF 3 μg/kg every other day.
ANC indicates absolute neutrophil count (normal, > 1500 per μL).
Chemotaxis is expressed as percentage of mean maximal slope of 2 age-matched controls measured on the same day; NT indicates not tested.
NADPH-oxidase activity is expressed as maximal slope of H2O2 release in nmol H2O2/min per 106 cells. The mean of 2 age-matched controls measured on the same day is given in parentheses.