Information on subject 105238

Basic details

Sex: Male

Country: Finland

Population: Finnish

Family ID: 215672

Father: 105233

Mother: 105234

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes

2017 [902] Fam.3:II.5(F3.II-5)
2018 [450] Fam.3 (9):II.5(F3.II-5)
2020 [214] Fam.F3:II.5(II.5)
2023 [910] Fam.3:II.9(F3:II:9)
2023 [1119] II:5(II.5)
2024 [1151] Fam.1:II.9(F1.II-5)
2025 [908] Fam.AS:II.9(204)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CVID12	NFKB1 insufficiency	AD	56.00	28.00	Definitive

Genetic variants

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

Clinical manifestations

Age	Sign/Symptom	Present?	Presentation
Unk.	Diarrhea	No
Unk.	Decreased IgA levels	No
Unk.	Decreased IgG levels	No
Unk.	Recurrent upper respiratory tract infection	No
Unk.	Decreased IgM levels	No
Unk.	Splenomegaly	No
Unk.	Autoimmune cytopenia	No
Unk.	Lung disease	No
Unk.	Arthritis	No
Unk.	Pneumonia	No
56.00	Decreased proportion of switched memory B cells	Yes
Unk.	Abscess	Yes
Unk.	Lymphadenopathy	No
Unk.	Hepatopathy	No
28.00	Septicaemia	Yes	acute
Unk.	Vasculitis	No
46.00	Leukocytosis	Yes	acute
Unk.	Cardiovascular system abnormality	No
Unk.	Bronchiectasis	No
Unk.	Nervous system abnormality	No
Unk.	Autoimmune thyroiditis	No
Unk.	Hepatomegaly	No
Unk.	Celiac disease	No
36.00	Erysipelas	Yes	acute
Unk.	Inflammation of the large intestine	No
Unk.	Aphthous oral ulcer	No
28.00	Patellar dislocation	Yes	recurrent
46.00	Elevated C-reactive protein	Yes	acute
Unk.	Frequent skin infections	Yes
28.00	Necrotizing fasciitis	Yes	recurrent
46.00	Necrotizing fasciitis	Yes
39.00	Subcutaneous lipoma	Yes
Unk.	Atrophic gastritis	No
36.00	Pyoderma gangrenosum	Yes	recurrent
39.00	Pyoderma gangrenosum	Yes
41.00	Pyoderma gangrenosum	Yes
36.00	Sterile abscess	Yes	acute
28.00	Knee pain	Yes	chronic
Unk.	Unusual gastrointestinal infection	No
41.00	Rotator cuff tear	Yes
Unk.	Systemic autoinflammation	Yes
28.00	Gluteal abscess	Yes
Unk.	Malignant neoplasm	No

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
	T-reg cells			8.50	3.20 - 9.30	Normal
56.00	B cells	275	80 - 616			Normal
56.00	Naive CD8+ T cells			41.60	18.80 - 71.00	Normal
56.00	central memory CD8 T cells			6.20	1.20 - 7.30	Normal
56.00	Effector memory CD8 T cells			11.00	14.60 - 63.00	Low
56.00	Effector memory CD8 TEMRA			41.30	4.50 - 33.70	High
56.00	Eosinophils	490	100 - 400			High
56.00	Basophils	40	1 - 100			Normal
56.00	Platelets	330000	150000 - 360000			Normal
56.00	Effector memory CD4 TEMRA			0.40	1.40 - 17.00	Low
56.00	Effector memory CD4 T cells			10.50	19.90 - 52.40	Low
56.00	central memory CD4 T cells			29.00	8.40 - 32.80	Normal
56.00	naive CD4 T cells			60.20	20.50 - 54.80	High
56.00	CD4 T cells	696	404 - 1612			Normal
56.00	CD8 T cells	640	220 - 1129			Normal
56.00	T cells	1450	742 - 2750			Normal
56.00	marginal zone B cells			8.40	7.20 - 30.80	Normal
56.00	naive B cells			85.90	43.20 - 82.40	High
56.00	plasmablasts			0.20	0.40 - 3.60	Low
56.00	transitional B cells			3.10	0.60 - 3.50	Normal
56.00	class switched memory B cells			3.80	6.50 - 29.20	Low
56.00	CD21-/low B cells			2.20	0.80 - 7.70	Normal
56.00	Lymphocytes	2500	1200 - 3500			Normal
56.00	Leukocytes	10400	4500 - 1350			High
56.00	Monocytes	1200	200 - 800			High
56.00	Neutrophils	6100	4500 - 1350			High
56.00	NKT cells	675	84 - 724			Normal

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
56.00	IgA	124	88 - 484 mg/dL	Normal
56.00	IgG	870	677 - 1500 mg/dL	Normal
56.00	IgM	76	36 - 259 mg/dL	Normal
56.00	IgE	23	1 - 130 IU/ml	Normal

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

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	TNF-alpha production	normal	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, severely	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	902
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	902
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	increased, severely	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, severely	Monocyte-derived macrophages	RT-qPCR	LPS	1151
Unk.	p65 expression	decreased	PBMCs	WB	Basal	902
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, severely	Monocyte-derived macrophages	ELISA	LPS	1151
Unk.	IL10 mRNA expression	increased	Monocyte-derived macrophages	RT-qPCR	LPS	1151

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