Table 1.

Clinical and hematologic features of AD DC


Generation

UPN

Age, y

Skin/nail findings

WBC/(mm3)

ANC/(mm3)

Hemoglobin level, g/dL

MCV, fL

Platelet count, × 103/μL
I   12   68*  +/+   8000   NA   14.7   100  69 
II   1   45*  +/+   2200   1056  10.6  117  16 
II   2   50   +/+   3910   1900   13.0   91   293  
II   3   46   +/+   3900   2391   12.3  104  140 
II   4   41   +/+   5100   2820   12.7  103  196  
II   5   37   +/+   5300   2760   14.7   95  210  
II   6   30   +/+   5000   3220   12.5  104  94 
III   7   22*  +/+   4400   2068   11.4  118  38 
III   8   18   +/+   3220   1420   14.6   99  83 
III   9   15   –/+   5300   2690   13.0   90   255  
III   10   8   –/–   5400   2376   12.1  89   147 
III
 
11
 
4
 
–/–
 
9900
 
5500
 
12.5
 
81
 
228
 

Generation

UPN

Age, y

Skin/nail findings

WBC/(mm3)

ANC/(mm3)

Hemoglobin level, g/dL

MCV, fL

Platelet count, × 103/μL
I   12   68*  +/+   8000   NA   14.7   100  69 
II   1   45*  +/+   2200   1056  10.6  117  16 
II   2   50   +/+   3910   1900   13.0   91   293  
II   3   46   +/+   3900   2391   12.3  104  140 
II   4   41   +/+   5100   2820   12.7  103  196  
II   5   37   +/+   5300   2760   14.7   95  210  
II   6   30   +/+   5000   3220   12.5  104  94 
III   7   22*  +/+   4400   2068   11.4  118  38 
III   8   18   +/+   3220   1420   14.6   99  83 
III   9   15   –/+   5300   2690   13.0   90   255  
III   10   8   –/–   5400   2376   12.1  89   147 
III
 
11
 
4
 
–/–
 
9900
 
5500
 
12.5
 
81
 
228
 

Complete blood counts and physical examinations were performed on all subjects except UPN 12 and UPN 1, where information was extracted from medical records. Skin findings included hypopigmentation or hyperpigmentation, while nail findings included ridging and dystrophic changes. WBC indicates white blood cell count; ANC, absolute neutrophil count; and MCV, mean corpuscular volume.

*

Dead

Value greater than 2 standard deviations above age-matched population

Value greater than 2 standard deviations below age-matched population

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