Information on subject 105859

Basic details

Sex: Female

Country: United Kingdom

Population: British

Family ID: 215894

Father:

Mother:

Consanguinity: Unknown

Clin. status: Affected

Age of death: 54.0

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CVID12	NFKB1 insufficiency	AD	51.00	18.00	Definitive
CVID2	Immunodeficiency, common variable, 2	AD/AR	51.00	18.00

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
TNFRSF13B	A181E	EX4	c.542C>A	p.Ala181Glu	missense_variant	Risk allele	HET	Likely
NFKB1	Q99*	EX6	c.295C>T	p.Gln99Ter	stop_gained	Pathogenic	HET	Yes, alone
PIK3R1	E217K	EX6	c.649G>A	p.Glu217Lys	missense_variant	Uncertain significance	HET	Uncertain

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Diarrhea	Yes		chronic
Unk.	(unusual) Respiratory tract infection	Yes	severe	recurrent
46.00	Decreased IgM levels	Yes
46.00	Abnormal lymphoproliferation	Yes
46.00	Autoimmune hemolytic anemia	Yes
18.00	Autoimmune thrombocytopenia	Yes
46.00	Enteropathy	Yes
Unk.	Sinusitis	Yes		chronic
Unk.	Otitis media	Yes		recurrent
46.00	Lymphadenopathy	Yes
46.00	Lymphoid interstitial pneumonia	Yes
54.00	Septicaemia	Yes	fatal
46.00	Lymphocytosis	Yes
Unk.	Bronchiectasis	Yes
Unk.	(unusual) Urinary tract infection	Yes		recurrent
46.00	Nodular regenerative hyperplasia of liver	Yes
Unk.	Panhypogammaglobulinemia	Yes	severe
46.00	Hepatosplenomegaly	Yes
Unk.	Chronic rhinitis	Yes
Unk.	Common variable immunodeficiency	Yes

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
43.00	B cells	140	100 - 500	11.00	6.00 - 19.00	Normal
43.00	Memory CD8+ T cells			39.70	4.00 - 23.00	High
43.00	central memory CD8 T cells			12.80	2.19 - 19.44	Normal
43.00	Effector memory CD8 T cells			31.50	16.00 - 70.30	Normal
43.00	Effector memory CD8 TEMRA			37.80	4.60 - 71.30	Normal
43.00	Effector memory CD4 TEMRA			0.60	0.30 - 7.30	Normal
43.00	Effector memory CD4 T cells			31.40	7.50 - 46.70	Normal
43.00	central memory CD4 T cells			64.20	20.30 - 50.50	High
43.00	T-reg cells			0.90	3.50 - 11.40	Low
43.00	Tfh cells			46.60	6.80 - 18.00	High
43.00	CD4 memory T cells			94.30	19.00 - 99.99	Normal
43.00	Naive CD8+ T cells			17.90	7.10 - 56.10	Normal
43.00	naive CD4 T cells			3.80	11.80 - 66.80	Low
43.00	T cells	1010	700 - 2100	77.00	55.00 - 83.00	Normal
43.00	naive B cells			69.60	45.70 - 84.30	Normal
43.00	transitional B cells			9.00	0.30 - 9.00	Normal
43.00	class switched memory B cells			2.40	6.40 - 31.70	Low
43.00	unswitched memory B cells			26.00	5.00 - 29.80	Normal
43.00	CD21-/low B cells			36.50	0.70 - 10.40	High
43.00	NK cells	150	90 - 600	11.00	7.00 - 31.00	Normal
43.00	CD8 T cells	330	200 - 900	24.00	10.00 - 39.00	Normal
43.00	CD4 T cells	740	300 - 1400	55.00	28.00 - 57.00	Normal
43.00	CD4+ Recent Thymic Emigrant			4.30	5.40 - 54.90	Low

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result
43.00	IgA	6	80 - 300 mg/dL	Low
43.00	IgG	89	600 - 1600 mg/dL	Low
43.00	IgM	6	40 - 250 mg/dL	Low

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

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	p-S6	increased	B cells	FCA	Basal	1107
Unk.	p-S6	increased	T cells	FCA	Basal	1107
Unk.	p105 expression	absent	PBMCs	WB	Basal, PMA/Ionomycin	1107
Unk.	p50 expression	absent	PBMCs	WB	Basal, PMA/Ionomycin	1107

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* Compared to WT controls
📊 shows raw values on hover