Information on subject 105057

Basic details

Sex: Female

Country: Germany

Population: German

Family ID: 215635

Father: 105071

Mother: 105072

Consanguinity: No

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CVID12	NFKB1 insufficiency	AD	26.00	14.00	Definitive

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
NFKB1	I47Yfs*2	EX4	c.139del	p.Ile47TyrfsTer2	frameshift_variant	Pathogenic	HET	Yes, alone

Age	Sign/Symptom	Present?	Presentation
Unk.	Diarrhea	Yes	recurrent
Unk.	Hypogammaglobulinemia	Yes
22.00	Decreased IgA levels	Yes
22.00	Decreased IgG levels	Yes
22.00	Decreased IgM levels	Yes
26.00	Abnormal lymphoproliferation	Yes
14.00	Autoimmune hemolytic anemia	Yes	recurrent
Unk.	Autoimmune thrombocytopenia	Yes
Unk.	Pancytopenia	Yes
Unk.	Pneumonia	Yes	recurrent
Unk.	Sinusitis	Yes
Unk.	Hypothyroidism	Yes
Unk.	Lymphadenopathy	Yes
26.00	Autoimmunity	Yes
Unk.	Vertigo	Yes	recurrent
Unk.	(unusual) Urinary tract infection	Yes
Unk.	Chronic kidney disease	Yes
Unk.	Ovarian cyst	Yes
Unk.	(unusual) Epstein-Barr virus infection	Yes	chronic
Unk.	Varicella zoster virus infection	Yes	recurrent
Unk.	Mucositis	Yes
Unk.	proteinuria	Yes	recurrent
Unk.	Ascites	Yes
Unk.	Headaches	Yes	recurrent
Unk.	Abdominal pain	Yes
Unk.	Mastoiditis	Yes
Unk.	Nephromegaly	Yes
Unk.	Chronic otitis media	Yes
Unk.	Hepatosplenomegaly	Yes
Unk.	Chronic lung disease	Yes
Unk.	Recurrent aphthous stomatitis	Yes	recurrent
26.00	Decreased circulating level of specific antibody	Yes
Unk.	Bloody diarrhea	Yes
Unk.	Vaginitis	Yes
Unk.	Pancolitis	Yes
Unk.	Hypoesthesia	Yes

Age	Cell_type	Relative(%)	Ref.range(%)	Result
22.00	B cells	4.00	6.00 - 25.00	Low
22.00	NK cells	4.00	5.00 - 27.00	Low
22.00	CD8 T cells	13.00	13.00 - 41.00	Normal
22.00	CD4 T cells	40.00	31.00 - 60.00	Normal
22.00	alpha-beta double-negative T cells	1.10	0.01 - 2.50	Normal
22.00	naive CD4 T cells	7.00	40.00 - 65.00	Low
22.00	Naive CD8+ T cells	31.00	6.00 - 99.99	Normal
22.00	CD4 memory T cells	91.00	25.00 - 52.00	High
22.00	Memory CD8+ T cells	42.00	14.00 - 98.00	Normal
22.00	gamma-delta T cells	0.30	3.00 - 10.00	Low
22.00	T-reg cells	0.18	1.00 - 2.00	Low
22.00	naive B cells	70.00	75.00 - 86.00	Low
22.00	T cells	57.00	55.00 - 84.00	Normal
22.00	unswitched memory B cells	6.00	4.00 - 10.00	Normal
22.00	memory B cells	0.44	3.00 - 10.00	Low
26.00	B cells	11.00	6.00 - 25.00	Normal
26.00	CD4 memory T cells	93.00	25.00 - 52.00	High
26.00	Memory CD8+ T cells	69.00	14.00 - 98.00	Normal
26.00	Naive CD8+ T cells	58.00	6.00 - 99.99	Normal
26.00	T cells	91.00	55.00 - 84.00	High
26.00	naive CD4 T cells	9.00	40.00 - 65.00	Low
26.00	alpha-beta double-negative T cells	4.60	0.01 - 2.50	High
26.00	memory B cells	5.00	3.00 - 10.00	Normal
26.00	CD4 T cells	65.00	31.00 - 60.00	High
26.00	CD8 T cells	34.00	13.00 - 41.00	Normal
26.00	naive B cells	79.00	75.00 - 86.00	Normal
26.00	NK cells	8.00	5.00 - 27.00	Normal
26.00	gamma-delta T cells	1.20	3.00 - 10.00	Low
26.00	unswitched memory B cells	12.00	4.00 - 10.00	High

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result
22.00	IgA	6	66 - 300 mg/dL	Low
22.00	IgG	485	680 - 1530 mg/dL	Low
22.00	IgM	24	34 - 250 mg/dL	Low
22.00	IgG1	342	420 - 1100 mg/dL	Low
22.00	IgG2	37	140 - 480 mg/dL	Low
22.00	IgG3	114	35 - 128 mg/dL	Normal
22.00	IgG4	0	7 - 48 mg/dL	Low

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

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	p105 expression	📊 decreased	T cells	WB	Basal	891
Unk.	p50 expression	📊 decreased	T cells	WB	Basal	891
Unk.	NFKB1 mRNA expression	📊 decreased	T cells	RT-qPCR	Basal	891
Unk.	Inhibition of apoptosis	absent	T cells	FCA	FasL+LPS, FasL+TNF	891

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