Patient characteristics
. | . | . | Clinical symptoms . | . | . | . | . | . | . | . | . | . | . | . | . | Chemotaxis¶ . | . | . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient (sex) . | Age, y . | SBDS mutation . | Skin lesions . | Hepatitis . | Hepatomegaly . | Diarrhea (elastase)* . | Growth . | Skeletal defects . | Infections† . | BFU-E‡ . | CFU-GM‡ . | Cytogenetics§ . | Hb, g/dL, and HbF (%) . | Platelets, 109/L . | ANC, μL∥ . | C5a . | IL-8 . | PAF . | ||||||||
| 1 (F) | 22 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | + | - | -(<5) | <p3 | Coxa vara Femora | + | 5 | 30 | A | 12.0 (2.1) | 50-150 | <600 | N | N | N | ||||||||
| 2 (M) | 2 | NT | - | + | + | - (<5) | p10 | - | - | 11.4 (3.2) | 300-450 | >1200 | N | N | N | |||||||||||
| 3 (M) | 3 | NT | - | - | + (5) | ≪p3 | Dig IV-V left hand | - | 12.1 (1.0) | 300-450 | >1200 | 47 | 21 | |||||||||||||
| 4 (M) | 10 | 297-300 del AAGA[E99fs] IVS2 (258)+2T>C[C84fs] | + | - | - | ±(15) | p25 | Femora | - | 20 | 75 | N | 13.1 (6.8) | 50-300 | <600 | N | N | N | ||||||||
| 5 (F) | 2 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | + | + | ± | ±(12) | p50 | - | + | 58 | 15 | N | 8.6 (16.9) | 50-300 | <600 | N | N | N | ||||||||
| 6 (F) | 35 | NT | - | - | - | -(25) | p10 | - | - | N | 12.0 (0) | 150-300 | 600-1200 | 34 | 52 | 40 | ||||||||||
| 7 (F) | <1 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | + | + | + | + (<5) | ≪p3 | Multiple | + | 86 | 30 | N | 9.0 (2.0) | 50-150 | <600# | 10 | 12 | 20 | ||||||||
| 8 (M) | 10 | IVS2 (258)+2T>C[C84fs] | - | + | ± | +(<5) | p3 | Pectus excavatum | - | 35 | 25 | N | 12.8 (1.2) | 50-150 | <600-1200 | 60 | N | 69 | ||||||||
| 9 (M) | 7 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | ± | + | + | +(<5) | p25 | Pectus excavatum Femora | + | 11.5 (1.0) | 50-300 | 600-1200 | 40 | 45 | 44 | |||||||||||
| 10 (M) | 20 | No mutation | - | + | - | -(15) | p10 | - | - | 110 | 56 | N | 12.0 (0) | 50-150 | 600-1200 | N | 63 | 66 | ||||||||
| 11 (M) | No mutation | - | + | + | +(14) | p50 | Femora | - | 216 | 14 | N | 11.7 (3.0) | 50-150 | >1200 | 32 | 22 | N | |||||||||
| 12 (F) | 5 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | - | + | -(30) | p10 | - | - | 52 | 23 | N | 12.8 (1.5) | 150-300 | >1200 | N | N | N | ||||||||
| 13 (M) | 18 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | + | - | -(15) | <p3 | - | - | 214 | 83 | N | 12.7 (1.0) | 150-300 | <600 | 29 | 53 | 58 | ||||||||
| 14 (M) | 4 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | + | + | +(15) | p3 | Multiple | + | 43 | 10 | A | 7.5 (6.7) | 300-450 | <600-1200 | 66 | 38 | 41 | ||||||||
| 15 (F) | 18 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | + | - | - | ±(30) | <p3 | Syndactyly | ± | 44 | 3 | A | 12.0 (1.0) | 150-300 | <600-1200 | N | N | |||||||||
| 16 (M) | 16 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | - | - | ±(<5) | ≪p3 | Scoliosis Femora | - | 22 | 5 | N | 12.0 (0.1) | 50-150 | <600 | N | 32 | 64 | ||||||||
| 17 (F) | 4 | 297-300 del AAGA[E99fs] IVS2 (258)+2T>C[C84fs] | - | + | + | +(<5) | p10 | - | - | N | 12.8 (0) | 50-150 | 600-1200 | 58 | 60 | 65 | ||||||||||
| 18 (F) | 4 | 183-184 TA>CT [K62X] IVS2 (258)+2T>C[C84fs] | - | + | - | +(<5) | p<3 | - | N | 11.9 (0) | 150-300 | <600 | ||||||||||||||
| 19 (M) | <1 | No mutation | - | + | + | +(15) | p3 | Femora | + | N | 11.2 (0) | 150-300 | 600-1200 | 30 | 49 | 44 | ||||||||||
| 20 (F) | 25 | 250 T>C [C84R] IVS2 (258)+2T>C[C84fs] | + | + | + | +(<5) | p10 | Femora | - | 10.4 (3.1) | 50-150 | <600 | ||||||||||||||
| 21 (M) | 16 | No mutation | - | + | - | -(60) | p10 | Multiple | - | 189 | 34 | N | 12.4 (1.0) | 150-300 | <600 | N | N | N | ||||||||
| 22 (M) | <1 | 183-184 TA>CT [K62X] IVS2 (258)+2T>C[C84fs] | + | + | - | +(<5) | ≪p3 | Femora | - | 132 | 56 | A | 11.7 (0) | 50-300 | <600 | 30 | ||||||||||
| 23 (M) | 7 | No mutation | + | - | - | -(<5) | p3 | Pectus excavatum Dig II-IV left hand | - | A | 12.7 (2.0) | 50-300 | >1200 | |||||||||||||
. | . | . | Clinical symptoms . | . | . | . | . | . | . | . | . | . | . | . | . | Chemotaxis¶ . | . | . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient (sex) . | Age, y . | SBDS mutation . | Skin lesions . | Hepatitis . | Hepatomegaly . | Diarrhea (elastase)* . | Growth . | Skeletal defects . | Infections† . | BFU-E‡ . | CFU-GM‡ . | Cytogenetics§ . | Hb, g/dL, and HbF (%) . | Platelets, 109/L . | ANC, μL∥ . | C5a . | IL-8 . | PAF . | ||||||||
| 1 (F) | 22 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | + | - | -(<5) | <p3 | Coxa vara Femora | + | 5 | 30 | A | 12.0 (2.1) | 50-150 | <600 | N | N | N | ||||||||
| 2 (M) | 2 | NT | - | + | + | - (<5) | p10 | - | - | 11.4 (3.2) | 300-450 | >1200 | N | N | N | |||||||||||
| 3 (M) | 3 | NT | - | - | + (5) | ≪p3 | Dig IV-V left hand | - | 12.1 (1.0) | 300-450 | >1200 | 47 | 21 | |||||||||||||
| 4 (M) | 10 | 297-300 del AAGA[E99fs] IVS2 (258)+2T>C[C84fs] | + | - | - | ±(15) | p25 | Femora | - | 20 | 75 | N | 13.1 (6.8) | 50-300 | <600 | N | N | N | ||||||||
| 5 (F) | 2 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | + | + | ± | ±(12) | p50 | - | + | 58 | 15 | N | 8.6 (16.9) | 50-300 | <600 | N | N | N | ||||||||
| 6 (F) | 35 | NT | - | - | - | -(25) | p10 | - | - | N | 12.0 (0) | 150-300 | 600-1200 | 34 | 52 | 40 | ||||||||||
| 7 (F) | <1 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | + | + | + | + (<5) | ≪p3 | Multiple | + | 86 | 30 | N | 9.0 (2.0) | 50-150 | <600# | 10 | 12 | 20 | ||||||||
| 8 (M) | 10 | IVS2 (258)+2T>C[C84fs] | - | + | ± | +(<5) | p3 | Pectus excavatum | - | 35 | 25 | N | 12.8 (1.2) | 50-150 | <600-1200 | 60 | N | 69 | ||||||||
| 9 (M) | 7 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | ± | + | + | +(<5) | p25 | Pectus excavatum Femora | + | 11.5 (1.0) | 50-300 | 600-1200 | 40 | 45 | 44 | |||||||||||
| 10 (M) | 20 | No mutation | - | + | - | -(15) | p10 | - | - | 110 | 56 | N | 12.0 (0) | 50-150 | 600-1200 | N | 63 | 66 | ||||||||
| 11 (M) | No mutation | - | + | + | +(14) | p50 | Femora | - | 216 | 14 | N | 11.7 (3.0) | 50-150 | >1200 | 32 | 22 | N | |||||||||
| 12 (F) | 5 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | - | + | -(30) | p10 | - | - | 52 | 23 | N | 12.8 (1.5) | 150-300 | >1200 | N | N | N | ||||||||
| 13 (M) | 18 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | + | - | -(15) | <p3 | - | - | 214 | 83 | N | 12.7 (1.0) | 150-300 | <600 | 29 | 53 | 58 | ||||||||
| 14 (M) | 4 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | + | + | +(15) | p3 | Multiple | + | 43 | 10 | A | 7.5 (6.7) | 300-450 | <600-1200 | 66 | 38 | 41 | ||||||||
| 15 (F) | 18 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | + | - | - | ±(30) | <p3 | Syndactyly | ± | 44 | 3 | A | 12.0 (1.0) | 150-300 | <600-1200 | N | N | |||||||||
| 16 (M) | 16 | 183-184 TA>CT[K62X] IVS2 (258)+2T>C[C84fs] | - | - | - | ±(<5) | ≪p3 | Scoliosis Femora | - | 22 | 5 | N | 12.0 (0.1) | 50-150 | <600 | N | 32 | 64 | ||||||||
| 17 (F) | 4 | 297-300 del AAGA[E99fs] IVS2 (258)+2T>C[C84fs] | - | + | + | +(<5) | p10 | - | - | N | 12.8 (0) | 50-150 | 600-1200 | 58 | 60 | 65 | ||||||||||
| 18 (F) | 4 | 183-184 TA>CT [K62X] IVS2 (258)+2T>C[C84fs] | - | + | - | +(<5) | p<3 | - | N | 11.9 (0) | 150-300 | <600 | ||||||||||||||
| 19 (M) | <1 | No mutation | - | + | + | +(15) | p3 | Femora | + | N | 11.2 (0) | 150-300 | 600-1200 | 30 | 49 | 44 | ||||||||||
| 20 (F) | 25 | 250 T>C [C84R] IVS2 (258)+2T>C[C84fs] | + | + | + | +(<5) | p10 | Femora | - | 10.4 (3.1) | 50-150 | <600 | ||||||||||||||
| 21 (M) | 16 | No mutation | - | + | - | -(60) | p10 | Multiple | - | 189 | 34 | N | 12.4 (1.0) | 150-300 | <600 | N | N | N | ||||||||
| 22 (M) | <1 | 183-184 TA>CT [K62X] IVS2 (258)+2T>C[C84fs] | + | + | - | +(<5) | ≪p3 | Femora | - | 132 | 56 | A | 11.7 (0) | 50-300 | <600 | 30 | ||||||||||
| 23 (M) | 7 | No mutation | + | - | - | -(<5) | p3 | Pectus excavatum Dig II-IV left hand | - | A | 12.7 (2.0) | 50-300 | >1200 | |||||||||||||
M indicates male; F, female.
Elastase is expressed as μg/g feces (N < 200 μg/g)
Infections are defined as follows: -, not present; ±, only at early age; and +, invasive or recurrent that required antibiotics
Normal BFU-E values are 295 ± 100.8 colonies/105 nuclear cells (nucleated BM cells), CFU-GM values are 492 ± 120.2 colonies/105 nuclear cells (nucleated BM cells), age-matched
A indicates abnormal findings (see “Results and discussion”); N, normal findings
ANC indicates absolute neutrophil counts (low < 600 cells/μL, normal >1200/μL)
Chemotaxis is expressed as percentage of the mean maximal slope (cells/min) of 2 age-matched controls measured on the same day (<70% of the mean of the day as well as <70% of the mean of 40 historic controls is considered abnormal; blanks without stimuli were not subtracted (see Figure 1A)
G-CSF 30 μg/kg was given every other day