Table 1 Abnormal bone mineral density values in WS patients

From: WHIM Syndrome-linked CXCR4 mutations drive osteoporosis

 

Gender

Chronic treatment

Lumbar spine

Femoral neck

P1

Female

No

−3.1a

0

P2

Female

No

−1.1

−1.8

P3b

Male

Yesc

−1.8

−2.3

P4

Female

Yesd

−2.7

−1.3

P5b

Male

Yese

−1.8

−2.2

  1. Characteristics of each patient with low BMD value are shown. Four patients carry the CXCR4R334X mutation and one displays the CXCR4S338X mutation. There were 3 women and 2 men with an average age of 33.2 years (range 13–52). T-scores for lumbar spine (L1-L4) and femoral neck have been evaluated. According to World Health Organization (WHO) criteria, values classify patients as osteopenic with a T-score between −1.0 and −2.5 or osteoporotic with a T-score at or below −2.5.
  2. aValues outside the normal range defined by WHO are italicized.
  3. bFor patients 3 and 5, because of their young age, Z-scores are given with a value at or below −2.0 considered as abnormal.
  4. cG-CSF since age of 2.
  5. dG-CSF several years at the time of scan.
  6. eG-CSF for 6 months at the time of scan.