Information on subject 102865

Basic details

Sex: Female

Country: Italy

Population: Italian

Family ID: 214996

Father: 102866

Mother: 102867

Consanguinity: Yes

Clin. status: Affected

Age of death:

Ref.ID & pub.codes

2022 [749] PtII-1(II.1)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
IMD71	ARPC1B deficiency	AR	12.00	0.17
HND	Hartnup disease	AR	3.00	0.17

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
SLC6A19	V536M	EX11	c.1606G>A	p.Val536Met	missense_variant	Pathogenic	HOM	Yes, part of genotype
ARPC1B	G71_N75del	EX4	c.212_226del	p.Gly71_Asn75del	inframe_deletion	Pathogenic	HOM	Yes, part of genotype

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
2.75	Reduced proportion of CD4 T cells	Yes
6.83	Decreased proportion of switched memory B cells	Yes
6.83	Increased proportion of CD21low B cells	Yes
Unk.	Otitis media	Yes		recurrent
0.17	Atopic dermatitis	Yes	severe
0.17	Eosinophilia	Yes		chronic
Unk.	Thrombocytopenia	Yes	mild
6.83	Lymphopenia	Yes		progressive
Unk.	Septicaemia	Yes
Unk.	Psoriasiform dermatitis	Yes	severe
Unk.	Platelet antibody positive	Yes
2.58	Reduced proportion of CD8 T cells	Yes
2.58	Increased IgE levels	Yes
Unk.	Warts	Yes
3.00	(unusual) Epstein-Barr virus infection	Yes
Unk.	ASMA positivity	Yes
0.17	Failure to thrive	Yes
3.00	Blepharitis	Yes
1.00	Increased IgA levels	Yes
0.17	Oral ulcer	Yes
0.17	Hematemesis	Yes
Unk.	Recurrent infections	Yes
Unk.	Increased proportion of regulatory T cells	Yes
0.17	Bloody diarrhea	Yes	severe
Unk.	Decreased proportion of memory B cells	Yes
6.83	Decreased proportion of unswitched memory B cells	Yes
Unk.	Antineutrophil antibodies	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
1.00	B cells	777	520 - 2300	13.20		Normal
1.00	Platelets	437000	150000 - 450000			Normal
1.00	CD4 T cells	3110	1600 - 6500	52.80		Normal
1.00	CD8 T cells	559	300 - 3400	9.50		Normal
1.00	T cells	3787	2200 - 9200	64.30		Normal
1.00	T-reg cells			8.85	3.60 - 9.00	Normal
1.00	NK cells	1190	97 - 1990	20.20		Normal
1.00	Lymphocytes	5890	3400 - 12200			Normal
1.00	Leukocytes	6940	6400 - 13000			Normal
1.00	Eosinophils	1160	30 - 499			High
2.58	NK cells	407	55 - 4000	14.40		Normal
2.58	CD8 T cells	136	200 - 2200	4.80		Low
2.58	Lymphocytes	2830	1400 - 12100			Normal
2.58	CD4 T cells	1027	400 - 7200	36.30		Normal
2.58	Leukocytes	6120	5200 - 11000			Normal
2.58	Eosinophils	350	30 - 499	5.80		Normal
2.58	T-reg cells			13.30	3.70 - 6.70	High
2.58	B cells	1186	160 - 3700	41.90		Normal
2.58	T cells	1228	700 - 8800	43.40		Normal
2.58	Platelets	98000	150000 - 450000			Low
2.75	T-reg cells			5.56	3.70 - 6.70	Normal*
2.75	B cells	1837	160 - 3700	66.80		Normal*
2.75	Lymphocytes	2750	1400 - 12100			Normal*
2.75	CD8 T cells	168	200 - 2200	6.10		Low*
2.75	Leukocytes	13970	5200 - 11000			High*
2.75	Eosinophils	310	30 - 499	2.20		Normal*
2.75	NK cells	316	55 - 4000	11.50		Normal*
2.75	CD4 T cells	357	400 - 7200	13.00		Low*
2.75	T cells	536	700 - 8800	43.40		Low*
2.75	Platelets	194000	150000 - 450000			Normal*
6.83	CD4 T cells	417	400 - 2500	37.60		Normal
6.83	Leukocytes	4440	4400 - 9500			Normal
6.83	Lymphocytes	1110	1200 - 4700			Low
6.83	Eosinophils	350	30 - 499	7.80		Normal
6.83	Platelets	136000	150000 - 450000			Low
6.83	CD8 T cells	153	200 - 1700	13.80		Low
6.83	Tfh cells			3.00	1.30 - 13.50	Normal
6.83	NK cells	174	70 - 590	15.70		Normal
6.83	transitional B cells			5.80	4.60 - 8.30	Normal
6.83	B cells	341	100 - 800	30.70		Normal
6.83	T cells	586	770 - 4000	52.80		Low
6.83	CD21-/low B cells			12.60	2.30 - 10.00	High
6.83	unswitched memory B cells			0.50	3.10 - 18.00	Low
6.83	naive B cells			93.00	59.70 - 88.40	High
6.83	class switched memory B cells			2.70	2.90 - 17.40	Low
8.83	class switched memory B cells			3.50	4.40 - 20.50	Low
8.83	CD8 T cells	121	200 - 1700	10.10		Low
8.83	naive B cells			89.80	58.50 - 84.60	High
8.83	transitional B cells			10.50	4.60 - 8.30	High
8.83	B cells	338	100 - 800	28.00		Normal
8.83	Platelets	30000	150000 - 450000			Low
8.83	unswitched memory B cells			0.70	3.00 - 21.10	Low
8.83	Leukocytes	6670	4400 - 9500			Normal
8.83	Lymphocytes	1200	1200 - 4700			Normal
8.83	CD4 T cells	475	400 - 2500	39.60		Normal
8.83	CD21-/low B cells			18.70	2.30 - 10.00	High
8.83	Eosinophils	530	30 - 499	8.00		High
8.83	NK cells	221	70 - 590	18.40		Normal
8.83	T-reg cells			17.40	2.30 - 7.70	High
8.83	T cells	626	770 - 4000	52.20		Low
9.17	Eosinophils	750	30 - 499	21.00		High*
9.17	T cells	460	770 - 4000	50.60		Low*
9.17	Platelets	59000	150000 - 450000			Low*
9.17	CD4 T cells	305	400 - 2500	33.50		Low*
9.17	Lymphocytes	910	1200 - 4700			Low*
9.17	Leukocytes	3550	4400 - 9500			Low*
9.17	NK cells	134	70 - 590	14.70		Normal*
9.17	B cells	306	100 - 800	33.60		Normal*
9.17	CD8 T cells	144	200 - 1700	15.80		Low*
10.50	B cells	322	100 - 800	35.40		Normal*
10.50	CD4 T cells	339	400 - 2500	37.20		Low*
10.50	Platelets	129000	150000 - 450000			Low*
10.50	Tfh cells			0.47	1.30 - 13.50	Low*
10.50	Eosinophils	4220	30 - 499	40.80		High*
10.50	Lymphocytes	911	1200 - 4700			Low*
10.50	NK cells	102	70 - 590	11.20		Normal*
10.50	Leukocytes	10350	4400 - 9500			High*
10.50	class switched memory B cells			6.00	4.40 - 20.50	Normal*
10.50	transitional B cells			0.90	1.40 - 13.00	Low*
10.50	CD21-/low B cells			18.30	2.70 - 8.70	High*
10.50	naive B cells			80.00	58.50 - 84.60	Normal*
10.50	CD8 T cells	101	200 - 1700	11.10		Low*
10.50	T cells	467	770 - 4000	51.30		Low*
10.50	unswitched memory B cells			1.60	3.00 - 21.10	Low*

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
1.00	IgA	195	6 - 58 mg/dL	High
1.00	IgM	59	18 - 145 mg/dL	Normal
1.00	IgE	87	0 - 100 IU/ml	Normal
1.00	IgG	845	270 - 790 mg/dL	High
2.58	IgM	65	26 - 201 mg/dL	Normal
2.58	IgE	5000	0 - 100 IU/ml	High
2.58	IgA	791	11 - 94 mg/dL	High
2.58	IgG	1028	365 - 1200 mg/dL	Normal
2.75	IgM	55	26 - 201 mg/dL	Normal
2.75	IgG	497	365 - 1200 mg/dL	Normal
2.75	IgA	561	11 - 94 mg/dL	High
6.83	IgM	39	33 - 207 mg/dL	Normal
6.83	IgG	1092	528 - 1490 mg/dL	Normal
6.83	IgA	1447	23 - 205 mg/dL	High
6.83	IgE	5000	0 - 100 IU/ml	High
8.83	IgM	46	30 - 220 mg/dL	Normal
8.83	IgA	1181	36 - 268 mg/dL	High
8.83	IgE	10400	0 - 100 IU/ml	High
8.83	IgG	589	527 - 1590 mg/dL	Normal
9.17	IgG	800	527 - 1590 mg/dL	Normal
9.17	IgM	75	30 - 220 mg/dL	Normal
9.17	IgA	1200	36 - 268 mg/dL	High
10.50	IgM	15	34 - 257 mg/dL	Low
10.50	IgG	956	646 - 1620 mg/dL	Normal
10.50	IgA	1460	54 - 268 mg/dL	High
10.50	IgE	35935	0 - 100 IU/ml	High

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

Phenotypic & functional assays

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	Radiosensitivity	increased	Fibroblasts	IF	Basal	749
Unk.	Radiosensitivity	increased	EBV-LCL	FACS, IF	Basal, Bleomycin	749

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* Compared to WT controls
📊 shows raw values on hover