Table 3. Heterozygous NFKB1 variants... | Rockefeller University Press

Table 3.

Heterozygous NFKB1 variants experimentally demonstrated to be deleterious or neutral

Source		Phenotype	Total	Tested	LOF	Hypomorphic	Neutral
Previous studies		CVID	78	76	33	16	27
		IDD	4	4	2	0	2
		Unspecified	15	15	1	1	13
			97	95	36	17	42
HGID	HGID-CVID	CVID	15	15	6	1	8
	HGID-ID	CVID	5	5	4	1	0
	HGID-ID	ID	64	64	1	0	63
gnomAD	Control		209	209	2^a	0	207
	Case		158	51	0	1	50
			367	260	2^a	1	257

Source		Phenotype	Total	Tested	LOF	Hypomorphic	Neutral
Previous studies		CVID	78	76	33	16	27
		IDD	4	4	2	0	2
		Unspecified	15	15	1	1	13
			97	95	36	17	42
HGID	HGID-CVID	CVID	15	15	6	1	8
	HGID-ID	CVID	5	5	4	1	0
	HGID-ID	ID	64	64	1	0	63
gnomAD	Control		209	209	2^a	0	207
	Case		158	51	0	1	50
			367	260	2^a	1	257

IDD, immune dysregulation disorder.

One variant has been reported in patients with CVID.