Information on subject 101167

Basic details

Sex: Male

Country: Germany

Population:

Family ID: 211470

Father: 105831

Mother: 105832

Consanguinity: Unknown

Clin. status: Affected

Age of death: 54.0

Ref.ID & pub.codes

2021 [460] Fam.1:II.1(patient)
2021 [118] Fam.F108:P108
2025 [908] Fam.DT:II.1(510)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
CVID12	NFKB1 insufficiency	AD	47.00	42.00	Disputed

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
NFKB1	A891Qfs*6	EX23	c.2670del	p.Ala891GlnfsTer6	frameshift_variant	Likely Benign	HET	Unlikely
CLEC7A	Y238*	EX6	c.714T>G	p.Tyr238Ter	stop_gained	Risk allele	HET	Unassigned

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
42.00	Decreased IgA levels	Yes
Unk.	Decreased IgG levels	Yes
Unk.	(unusual) Respiratory tract infection	Yes
Unk.	Decreased IgM levels	No
Unk.	Splenomegaly	Yes
50.00	Ileus	Yes		acute
28.00	Pneumonia	Yes		recurrent
Unk.	Hypertension	Yes
Unk.	Stage 3 chronic kidney disease	Yes		chronic
Unk.	Lymphopenia	Yes
54.00	Septicaemia	Yes		acute
Unk.	Autoimmunity	Yes
Unk.	Acute kidney failure	Yes		acute
48.00	Herpes Simplex Virus Infection	Yes	severe	recurrent
Unk.	Hypercholesterolemia	Yes
54.00	Pancreatitis	Yes		acute
49.00	Endocarditis	Yes
Unk.	Congestive heart failure	Yes
54.00	Colonic diverticulosis	Yes		acute
49.00	Monoclonal hypergammaglobulinemia	Yes
Unk.	Varicella zoster virus infection	Yes		recurrent
48.00	Cholecystitis	Yes		acute
Unk.	Coronary artery atherosclerosis	Yes
Unk.	Recurrent fevers	Yes
49.00	Intussusception	Yes		acute
54.00	Peritonitis	Yes		acute
54.00	Ruptured spleen	Yes	fatal	acute
41.00	Pyoderma gangrenosum	Yes	severe	recurrent
49.00	Clostridium difficile colitis	Yes		acute
Unk.	Cellulitis	Yes
50.00	Autoimmune myocarditis	Yes		recurrent
54.00	Gastric perforation	Yes	severe	acute

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
42.00	B cells	84	100 - 500	18.70	6.00 - 19.00	Low
42.00	NK cells	90	90 - 600	20.00	7.00 - 31.00	Normal
42.00	CD8 T cells	140	200 - 900	31.10	10.00 - 39.00	Low
42.00	CD4 T cells	109	300 - 1400	24.30	28.00 - 57.00	Low
42.00	Lymphocytes	450	1000 - 2800	7.80	27.00 - 34.00	Low
42.00	HLA-DR CD4 T cells			6.50	3.00 - 12.00	Normal
42.00	naive CD4 T cells			28.80	13.00 - 56.00	Normal
42.00	Naive CD8+ T cells			22.99	7.00 - 58.00	Normal
42.00	memory T cells			62.30	35.00 - 82.00	Normal
42.00	HLA-DR CD3 T cells			7.70	4.00 - 18.00	Normal
42.00	naive B cells			37.21	36.40 - 84.00	Normal
42.00	HLA-DR CD8 T cells			9.00	4.00 - 32.00	Normal
42.00	transitional B cells			0.17	0.80 - 4.40	Low
42.00	T cells	274	700 - 2100	60.80	55.00 - 83.00	Low
48.51	Platelets	91000	140000 - 400000			Low
48.51	Erythrocytes	5220000	4200000 - 6300000			Normal
48.51	Basophils	20	10 - 80	0.30	0.00 - 2.00	Normal
48.51	CD8 T cells	140	200 - 900	31.10	10.00 - 39.00	Low
48.51	CD4 T cells	109	300 - 1400	24.30	28.00 - 57.00	Low
48.51	Eosinophils	0	30 - 440	0.00	0.00 - 7.00	Low
48.51	Neutrophils	5180	1800 - 6200	90.00	40.00 - 75.00	Normal
48.51	T cells	274	700 - 2100	60.80	55.00 - 83.00	Low
48.51	NK cells	90	90 - 600	20.00	7.00 - 31.00	Normal
48.51	B cells	84	100 - 500	18.70	6.00 - 19.00	Low
48.51	Leukocytes	5760	4000 - 10000			Normal
48.51	Lymphocytes	450	1000 - 2800	8.50	27.00 - 34.00	Low
48.55	plasmablasts	1	1 - 20	0.88	0.70 - 6.00	Normal
48.55	naive B cells	31	28 - 550	37.21	33.00 - 99.99	Normal
48.55	marginal zone B cells	28		33.54	4.80 - 32.00	High
48.55	NK cells	90	100 - 1200	20.00	5.00 - 49.00	Low
48.55	B cells	84	100 - 500	10.90		Low
48.55	T cells	274	700 - 2100	60.80		Low
48.55	transitional B cells	0	1 - 100	0.17	0.70 - 24.00	Low
48.55	class switched memory B cells	14	5 - 130	16.63	3.00 - 46.00	Normal
48.55	CD21-/low B cells	7	2 - 49	8.35	2.00 - 14.00	Normal
48.55	IgA memory B cells	6	3 - 41	6.92		Normal
48.55	CD4 T cells	109	500 - 2000	24.30	28.00 - 64.00	Low
48.55	Lymphocytes	450	1100 - 3200		19.00 - 51.00	Low
48.55	CD8 T cells	140	200 - 1200	31.10	12.00 - 40.00	Low
48.55	Leukocytes	5760	4000 - 10000			Normal
48.55	IgG memory B cells	5	4 - 54	6.53		Normal

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
	IgA	60	70 - 400 mg/dL	Low
	IgM	56	40 - 230 mg/dL	Normal
	IgG	284	700 - 1600 mg/dL	Low
42.00	IgM	205	40 - 230 mg/dL	Normal
42.00	CRP	3	0 - 5 mg/L	Normal
42.00	IgG	642	700 - 1600 mg/dL	Low
42.00	IgA	111	70 - 400 mg/dL	Normal
48.51	IgG	642	700 - 1600 mg/dL	Low
48.51	IgA	111	70 - 400 mg/dL	Normal
48.51	IgM	205	40 - 230 mg/dL	Normal
48.55	IgA	111	70 - 400 mg/dL	Normal
48.55	IgM	205	40 - 230 mg/dL	Normal
48.55	IgE	20	10 - 100 IU/ml	Normal
48.55	IgG	642	700 - 1600 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.

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* Compared to WT controls
📊 shows raw values on hover