Information on subject 105105

Basic details

Sex: Female

Country: Austria

Population: Caucasian

Family ID: 215643

Father: 105108

Mother: 105107

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes

2016 [900] Fam.1:II.1(II-1)
2018 [450] Fam.(7):II.1(Index)
2020 [214] Fam.AB:II.1(II.1)
2025 [908] Fam.AD:II.1(117)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CVID12	NFKB1 insufficiency	AD	18.00	2.00	Definitive

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
NFKB1	G165Afs*32	EX7	c.494del	p.Gly165AlafsTer32	frameshift_variant	Pathogenic	HET	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Diarrhea	No
15.00	Hypogammaglobulinemia	Yes
Unk.	Decreased IgA levels	Yes
Unk.	Decreased IgG levels	Yes
Unk.	Recurrent upper respiratory tract infection	Yes
2.00	Recurrent upper respiratory tract infection	Yes		recurrent
Unk.	Decreased IgM levels	Yes
18.00	Splenomegaly	Yes	severe
15.00	Neutropenia	Yes		recurrent
Unk.	Autoimmune cytopenia	Yes
Unk.	Lung disease	No
15.00	Leukopenia	Yes		acute
18.00	Generalized lymphadenopathy	Yes
Unk.	Arthritis	No
Unk.	Pneumonia	No
Unk.	Abscess	Yes
Unk.	Sinusitis	Yes
Unk.	Arthralgia	Yes		recurrent
Unk.	Reduced IgG2 levels	Yes
15.00	Thrombocytopenia	Yes		acute
16.00	Lymphadenopathy	Yes
Unk.	Hepatopathy	No
16.00	Esophagitis	Yes
Unk.	Septicaemia	No
16.00	Fever	Yes
Unk.	Vasculitis	No
Unk.	Cardiovascular system abnormality	No
Unk.	Reduced IgG1 levels	Yes
Unk.	Bronchiectasis	No
Unk.	Nervous system abnormality	No
Unk.	Autoimmune thyroiditis	No
Unk.	(unusual) Urinary tract infection	Yes
18.00	(unusual) Epstein-Barr virus infection	Yes
18.00	Hepatomegaly	Yes	severe
Unk.	Celiac disease	No
15.00	Cervical lymphadenopathy	Yes
Unk.	Inflammation of the large intestine	No
Unk.	Aphthous oral ulcer	No
15.00	Elevated C-reactive protein	Yes		recurrent
18.00	Elevated C-reactive protein	Yes		acute
Unk.	Frequent skin infections	No
15.00	Hepatosplenomegaly	No
16.00	Hepatosplenomegaly	Yes	mild
Unk.	Atrophic gastritis	No
5.00	Enlarged tonsils	Yes
Unk.	Unusual gastrointestinal infection	No
Unk.	Recurrent pharyngitis	Yes
15.00	Parapharyngeal abscess	Yes		acute
Unk.	Malignant neoplasm	Yes
15.00	Common variable immunodeficiency	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
16.00	B cells	80	200 - 600	54.00		Low
16.00	Leukocytes	1110	4000 - 12000			Low
16.00	class switched memory B cells			0.90	4.10 - 18.70	Low
16.00	NK cells	150	70 - 1200			Normal
16.00	Neutrophils	100	1900 - 8000			Low
16.00	Lymphocytes	700	800 - 3500			Low
16.00	unswitched memory B cells			3.50	6.10 - 16.90	Low
16.00	T cells	1000	800 - 3500			Normal
16.00	CD8 T cells	490	900 - 3400			Low
16.00	CD4 T cells	420	400 - 2100			Normal
16.00	Platelets	119000	140000 - 400000			Low
16.50	Lymphocytes	1080	800 - 3500			Normal
16.50	Platelets	193000	140000 - 400000			Normal
16.50	Leukocytes	3700	4000 - 12000			Low
16.50	CD4 T cells	500	400 - 2100			Normal
16.50	NK cells	100	70 - 1200			Normal
16.50	CD8 T cells	500	900 - 3400			Low
16.50	Neutrophils	1980	1900 - 8000			Normal
16.50	T cells	1200	800 - 3500			Normal
16.50	B cells	60	200 - 600			Low
17.00	unswitched memory B cells			7.70	6.10 - 16.90	Normal
17.00	NK cells	170	70 - 1200			Normal
17.00	T cells	1280	800 - 3500			Normal
17.00	Neutrophils	680	1900 - 8000			Low
17.00	B cells	50	200 - 600			Low
17.00	Leukocytes	2300	4000 - 12000			Low
17.00	CD4 T cells	610	400 - 2100			Normal
17.00	class switched memory B cells			3.80	4.10 - 18.70	Low
17.00	Platelets	97000	140000 - 400000			Low
17.00	Lymphocytes	1180	800 - 3500			Normal
17.00	CD8 T cells	550	200 - 1200			Normal
19.00	CD4 T cells	660	400 - 2100			Normal
19.00	CD8 T cells	230	200 - 1200			Normal
19.00	Neutrophils	300	1900 - 8000			Low
19.00	Platelets	147000	140000 - 400000			Normal
19.00	T cells	940	800 - 3500			Normal
19.00	NK cells	40	70 - 1200			Low
19.00	Leukocytes	2500	4000 - 12000			Low
19.00	Lymphocytes	1580	800 - 3500			Normal
19.00	B cells	20	200 - 600			Low
19.50	CD8 T cells	340	200 - 1200			Normal
19.50	Leukocytes	2300	4000 - 12000			Low
19.50	NK cells	90	70 - 1200			Normal
19.50	CD4 T cells	450	400 - 2100			Normal
19.50	B cells	0	200 - 600			Low*
19.50	Neutrophils	970	1900 - 8000			Low
19.50	Lymphocytes	1040	800 - 3500			Normal
19.50	T cells	840	800 - 3500			Normal
19.50	Platelets	115000	140000 - 400000			Low
19.60	CD4 T cells	390	400 - 2100			Low
19.60	Lymphocytes	960	800 - 3500			Normal
19.60	Platelets	225000	140000 - 400000			Normal
19.60	Leukocytes	4000	4000 - 12000			Normal
19.60	Neutrophils	2800	1900 - 8000			Normal
19.60	CD8 T cells	380	200 - 1200			Normal
19.60	NK cells	90	70 - 1200			Normal
19.60	B cells	0	200 - 600			Low*
19.60	T cells	830	800 - 3500			Normal*
19.90	NK cells	100	70 - 1200			Normal
19.90	Leukocytes	2100	4000 - 12000			Low
19.90	Lymphocytes	970	800 - 3500			Normal
19.90	CD8 T cells	250	200 - 1200			Normal
19.90	CD4 T cells	550	400 - 2100			Normal
19.90	Neutrophils	990	1900 - 8000			Low
19.90	B cells	10	200 - 600			Low*
19.90	T cells	840	800 - 3500			Normal
19.90	Platelets	70000	140000 - 400000			Low

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
16.00	IgA	1	70 - 400 mg/dL	Low
16.00	IgG	232	700 - 1600 mg/dL	Low
16.00	IgM	1	40 - 230 mg/dL	Low
16.00	IgG1	148	280 - 800 mg/dL	Low
16.00	IgG2	61	115 - 570 mg/dL	Low
16.00	IgG3	22	24 - 125 mg/dL	Low
16.00	IgG4	1	5 - 125 mg/dL	Low

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

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	p105 expression	decreased	EBV-LCL	WB	Basal, PMA/Ionomycin	900
Unk.	p50 expression	decreased	EBV-LCL	WB	Basal, PMA/Ionomycin	900
Unk.	p-p105	decreased	EBV-LCL	WB	PMA/Ionomycin	900

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* Compared to WT controls
📊 shows raw values on hover