Table 1.
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.