Table 4 Families with mutations in... | American Society of Hematology

Table 4

Families with mutations in TNFRSF13B

Family	Individual	Age, y	Affection status	TNFRSF13B mutation	IgG, g/L	IgA, g/L	IgM, g/L
A	I.1	42	Healthy	C104R	12.9	0.83	1.24
	I.2	40	Healthy	C104Y	12.04	1.6	0.82
	II.1	14	CVID	C104R/C104Y	2.87	0.06	0.14
	II.2	4	CVID	C104R/C104Y	3.59	0.12	0.19
B	I.1	55	Dysgamma	I87N*	5.5	0.36	0.99
	I.2	54	Healthy	Y79C	7.6	1.4	1.3
	II.1	33	IgG subclass deficiency	Y79C/I87N	5.9	1.1	1.3
	II.2	32	IgG subclass deficiency	Y79C/I87N	5.6	0.9	0.5
C	II.1	53	CVID	c.204insA/C104R	2.30	0.23	0.31
	III.1	37	IgG₁ subclass deficiency	c.204insA	5.94	0.69	1.31
D	I.2	66	CVID	C104R	3.31	0.07	1.18
	II.1	36	Dysgamma	C104R	7.14	0.34	0.64
	II.2	32	CVID	C104R	3.4	0	0.23
	III.1	6	Healthy	wt	7.43	0.58	0.36
	III.2	4	Dysgamma	wt	5.53	0.24	0.53
E(cv78)	I.1	87	SIgAD	unknown	16.0	0	3.6
	I.2	77	Healthy	wt	12.0	1.05	0.7
	II.1	52	CVID	wt	8.8†	0.1	0.1
	II.2	57	CVID	C104R	7.4†	0.1	0.1
	II.3	56	SIgAD	wt	16.0	0	1.6
	II.4	54	SIgAD	wt	15.0	0	1.6
F(cv132)	I.1	61	Healthy	A181E	NA	NA	NA
	I.2	56	CVID	wt	9.2†	0.1	< 0.1
	II.1	19	CVID	A181E	2.73	0.17	0.25
	II.2	26	Healthy	A181E	7.8	2.0	0.9
G	I.1	34	Healthy	wt	9.78	4.86	0.81
	I.2	32	Healthy	D41H;c.298insT	14.92	3.23	2.11
	II.1	9	CVID	D41H;c.298insT	0.19	0.02	3.51
	II.2	1	Healthy	D41H;c.298insT	8.98	0.62	0.71

Family	Individual	Age, y	Affection status	TNFRSF13B mutation	IgG, g/L	IgA, g/L	IgM, g/L
A	I.1	42	Healthy	C104R	12.9	0.83	1.24
	I.2	40	Healthy	C104Y	12.04	1.6	0.82
	II.1	14	CVID	C104R/C104Y	2.87	0.06	0.14
	II.2	4	CVID	C104R/C104Y	3.59	0.12	0.19
B	I.1	55	Dysgamma	I87N*	5.5	0.36	0.99
	I.2	54	Healthy	Y79C	7.6	1.4	1.3
	II.1	33	IgG subclass deficiency	Y79C/I87N	5.9	1.1	1.3
	II.2	32	IgG subclass deficiency	Y79C/I87N	5.6	0.9	0.5
C	II.1	53	CVID	c.204insA/C104R	2.30	0.23	0.31
	III.1	37	IgG₁ subclass deficiency	c.204insA	5.94	0.69	1.31
D	I.2	66	CVID	C104R	3.31	0.07	1.18
	II.1	36	Dysgamma	C104R	7.14	0.34	0.64
	II.2	32	CVID	C104R	3.4	0	0.23
	III.1	6	Healthy	wt	7.43	0.58	0.36
	III.2	4	Dysgamma	wt	5.53	0.24	0.53
E(cv78)	I.1	87	SIgAD	unknown	16.0	0	3.6
	I.2	77	Healthy	wt	12.0	1.05	0.7
	II.1	52	CVID	wt	8.8†	0.1	0.1
	II.2	57	CVID	C104R	7.4†	0.1	0.1
	II.3	56	SIgAD	wt	16.0	0	1.6
	II.4	54	SIgAD	wt	15.0	0	1.6
F(cv132)	I.1	61	Healthy	A181E	NA	NA	NA
	I.2	56	CVID	wt	9.2†	0.1	< 0.1
	II.1	19	CVID	A181E	2.73	0.17	0.25
	II.2	26	Healthy	A181E	7.8	2.0	0.9
G	I.1	34	Healthy	wt	9.78	4.86	0.81
	I.2	32	Healthy	D41H;c.298insT	14.92	3.23	2.11
	II.1	9	CVID	D41H;c.298insT	0.19	0.02	3.51
	II.2	1	Healthy	D41H;c.298insT	8.98	0.62	0.71

Patients and relatives were assigned to their respective affection status as being healthy, or having sIgAD, dysgamma, IgG subclass deficiency, or CVID.

Values below normal range for age are printed in italics. Dysgamma indicates dysgammaglobulinemia; wt, wild type; and NA, not available.

This mutation was inferred.

†

IgG level while the patient received intravenous immunoglobulin substitution therapy.

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