Information on subject 105232

Basic details

Sex: Male

Country: Finland

Population: Finnish

Family ID: 215672

Father: 105233

Mother: 105234

Consanguinity: No

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CVID12	NFKB1 insufficiency	AD	62.00	48.00	Definitive

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
NFKB1	R157*	EX7	c.469C>T	p.Arg157Ter	stop_gained	Pathogenic	HET	Yes, alone

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Diarrhea	No
Unk.	Decreased IgA levels	No
Unk.	Decreased IgG levels	Yes
Unk.	Recurrent upper respiratory tract infection	No
Unk.	Decreased IgM levels	Yes
Unk.	Splenomegaly	No
Unk.	Autoimmune cytopenia	No
Unk.	Lung disease	No
Unk.	Arthritis	No
48.00	Pneumonia	Yes		acute
62.00	Decreased proportion of switched memory B cells	Yes
48.00	Abscess	Yes
Unk.	Lymphadenopathy	No
Unk.	Hepatopathy	No
48.00	Septicaemia	Yes		acute
57.00	Septicaemia	Yes		acute
48.00	Fever	Yes		acute
Unk.	Vasculitis	No
Unk.	Lymphocytosis	Yes		acute
48.00	Leukocytosis	Yes		recurrent
Unk.	Cardiovascular system abnormality	No
Unk.	Bronchiectasis	No
Unk.	Nervous system abnormality	No
Unk.	Autoimmune thyroiditis	No
Unk.	Hepatomegaly	No
Unk.	Celiac disease	No
Unk.	Inflammation of the large intestine	No
Unk.	Aphthous oral ulcer	No
48.00	Elevated C-reactive protein	Yes		recurrent
Unk.	Frequent skin infections	No
48.00	Necrotizing fasciitis	Yes	severe	recurrent
56.00	Necrotizing fasciitis	Yes
Unk.	Atrophic gastritis	No
Unk.	Unusual gastrointestinal infection	No
Unk.	Systemic autoinflammation	Yes
48.00	Necrotizing cellulitis	Yes		recurrent
Unk.	Malignant neoplasm	No

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
	T-reg cells			6.30	3.20 - 9.30	Normal
62.00	class switched memory B cells			5.40	6.50 - 29.20	Low
63.00	B cells	415	80 - 616			Normal
63.00	Naive CD8+ T cells			19.90	18.80 - 71.00	Normal
63.00	central memory CD8 T cells			2.70	1.20 - 7.30	Normal
63.00	Effector memory CD8 T cells			7.70	14.60 - 63.00	Low
63.00	Effector memory CD8 TEMRA			69.80	4.50 - 33.70	High
63.00	Eosinophils	300	100 - 400			Normal
63.00	Basophils	30	1 - 100			Normal
63.00	Platelets	286000	150000 - 360000			Normal
63.00	Effector memory CD4 TEMRA			0.50	1.40 - 17.00	Low
63.00	Effector memory CD4 T cells			18.70	19.90 - 52.40	Low
63.00	central memory CD4 T cells			30.60	8.40 - 32.80	Normal
63.00	naive CD4 T cells			50.20	20.50 - 54.80	Normal
63.00	CD4 T cells	971	404 - 1612			Normal
63.00	CD8 T cells	1859	220 - 1129			High
63.00	T cells	2901	742 - 2750			High
63.00	marginal zone B cells			1.70	7.20 - 30.80	Low
63.00	naive B cells			90.50	43.20 - 82.40	High
63.00	plasmablasts			0.20	0.40 - 3.60	Low
63.00	transitional B cells			1.20	0.60 - 3.50	Normal
63.00	class switched memory B cells			5.40	6.50 - 29.20	Low
63.00	CD21-/low B cells			2.30	0.80 - 7.70	Normal
63.00	Lymphocytes	4000	1200 - 3500			High
63.00	Leukocytes	11200	4500 - 13500			Normal
63.00	Monocytes	1400	200 - 800			High
63.00	Neutrophils	5600	4500 - 13500			Normal
63.00	NKT cells	415	84 - 724			Normal

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result
63.00	IgA	217	88 - 484 mg/dL	Normal
63.00	IgG	640	677 - 1500 mg/dL	Low
63.00	IgM	22	36 - 259 mg/dL	Low
63.00	IgE	24	1 - 130 IU/ml	Normal
63.00	IgG1	560	405 - 1011 mg/dL	Normal
63.00	IgG2	270	169 - 786 mg/dL	Normal
63.00	IgG3	13	11 - 85 mg/dL	Normal
63.00	IgG4	13	3 - 201 mg/dL	Normal

[ℹ] shows name on hover
* Measured during IVIG or other treatment.

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	TNF-alpha production	increased	Monocyte-derived macrophages	ELISA	LPS	1151
Unk.	p-p65-NFkB	📊 decreased	Neutrophils	FCA	Zymosan	1119
Unk.	IL-1b production	📊 increased	PBMCs	ELISA	LPS+ATP	1119
Unk.	IL-1b production	increased	Macrophages	ELISA	LPS+ATP	902
Unk.	IL-1b production	increased	Monocyte-derived macrophages	ELISA	LPS+ATP, LPS+MSU	1151
Unk.	IL-8 production	📊 increased	PBMCs	ELISA	LPS+ATP	1119
Unk.	oxidative burst capacity	📊 decreased	Neutrophils	OBA	Zymosan	1119
Unk.	p105 expression	decreased, severely	PBMCs	WB	Basal, LPS	1151
Unk.	p105 expression	📊 decreased	PBMCs	WB	Basal	1119
Unk.	p50 expression	decreased, severely	PBMCs	WB	Basal, LPS	1151
Unk.	p50 expression	📊 decreased	PBMCs	WB	Basal	1119
Unk.	NFKB1 mRNA expression	decreased	Monocyte-derived macrophages	RT-qPCR	Basal, LPS	1151
Unk.	CXCL10 mRNA expression	normal	Monocyte-derived macrophages	RT-qPCR	LPS	1151
Unk.	IFIT2 mRNA expression	increased	Monocyte-derived macrophages	RT-qPCR	LPS	1151
Unk.	p65 nuclear translocation	decreased	Monocyte-derived macrophages	IF	LPS	1151
Unk.	IFNB1 mRNA expression	increased	Monocyte-derived macrophages	RT-qPCR	LPS	1151
Unk.	NLRP3 inflammasome activation	increased	Macrophages	ELISA	LPS+ATP	902
Unk.	IL1B mRNA expression	increased	Macrophages	RT-qPCR	LPS+ATP	902
Unk.	NLRP3 mRNA expression	normal	Macrophages	RT-qPCR	LPS+ATP	902
Unk.	p50 nuclear translocation	decreased	Monocyte-derived macrophages	IF	LPS	1151
Unk.	IFN-beta production	increased	Monocyte-derived macrophages	ELISA	LPS	1151
Unk.	IL10 mRNA expression	normal	Monocyte-derived macrophages	RT-qPCR	LPS	1151

[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover