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. 2020 Aug 31;136(26):2994–3003. doi: 10.1182/blood.2020007197

Table 1.

Baseline genetic, clinical, and biological manifestations of WHIM syndrome in 8 patients enrolled in X4P-001-MKKA study

P1 P2 P3 P4 P5 P6 P7 P8 Reference range
Mutation R334X R334X R334X E343X S324Pfs365X R334X R334X R334X
Sex M F F M F F F F
Age, y 39 57 18 25 34 23 41 49
Hemogram
 WBC, 109 0.7 0.44 0.75 1.21 1.38 0.54 0.9 4.1 3.5-10.5
 Neutrophils, 109 0.19 0.06 0.14 0.11 0.69 0.06 0.3 2.3 2.1-7.8
 Lymphocytes, 109 0.43 0.35 0.53 1.04 0.58 0.35 0.5 1.4 0.8-3.3
 Monocytes, 109 0.06 0.01 0.07 0.05 0.1 0.11 0.1 0.3 0.3-1.3
 Basophils, 109 0.01 0 0 0.01 0 0.01 0 0.1 0-0.2
 Eosinophils, 109 0.01 0.01 0.01 0 0.01 0.02 0 0 0-0.4
 Hb, g/L 136 114 132 146 120 136 137 151 130-175
 Platelets, 109/L 187 122 164 174 176 203 188 500 140-370
Serumimmunoglobulin, g/L   
 IgG 10.47 5.97 4.98 9.23 7.04 6.03 10 12.3 7-16
 IgG1 8.19 4.26 3.61 6.44 4.14 3.54 7.5 6.9 4.2-12.92
 IgG2 1.68 0.96 0.63 2.41 1.59 1.09 1.2 4.9 1.17-7.47
 IgG3 0.1 0.09 0.29 0.31 0.29 0.33 0.08 0.15 0.41-1.29
 IgG4 0.04 0.04 0.04 0.05 0.05 0.04 0.02 0.17 0.01-1.64
 IgM 0.74 0.70 1.08 0.45 1.04 0.32 1.2 0.42 0.4-2.3
 IgA 0.05 0.52 0.57 0.85 1.73 1.35 2.67 0.28 0.9-3.86
Clinical presentation
 Warts + + + + + +
Prior treatments
 Immunoglobulin therapy + +*
 G-CSF + + + + + + + +
Status on study Ongoing Ongoing Off Off Off Ongoing Ongoing Ongoing
 Mavorixafor, mg (once daily) 400 400 300 300 200 400 300 300
 Duration on study, d 873 873 239 167 6 598 508 500

+, present; −, absent; F, female; Hb, hemoglobin; M, male.

*

Ongoing at baseline.