Table 1. Baseline genetic, clinical, and... | American Society of Hematology

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

	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.