Information on subject 103880

Basic details

Sex: Female

Country: Finland

Population: Finnish

Family ID: 215269

Father: 103996

Mother: 103995

Consanguinity: Unknown

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
IMAD1	Infantile-Onset Multisystem Autoimmune Disease 1	AD	17.00	1.00

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
STAT3	K658N	EX21	c.1974G>C	p.Lys658Asn	missense_variant	Pathogenic	HET	Yes, alone

Age	Sign/Symptom	Present?	Severity
1.00	Diarrhea	Yes
Unk.	Hypogammaglobulinemia	Yes	mild
Unk.	Decreased IgA levels	No
Unk.	Decreased IgG levels	Yes
Unk.	Recurrent upper respiratory tract infection	Yes
Unk.	Decreased IgM levels	No
6.00	Splenomegaly	Yes
Unk.	Autoimmune hemolytic anemia	Yes
Unk.	Reduced ab-response to pneumococcal polysaccharide vaccine	No
Unk.	Asthma	Yes
Unk.	Gastritis	Yes
2.00	Dermatitis	Yes
Unk.	Reduced ab-response to tetanus vaccine	No
Unk.	negative ab-response to diphtheria vaccine	No
Unk.	Hypothyroidism	Yes	mild
Unk.	Reduced NK cell number	Yes
11.00	Villous atrophy	Yes
6.00	Lymphadenopathy	Yes
3.00	Septicaemia	Yes
Unk.	Increased IgE levels	No
12.00	Bronchiectasis	Yes	moderate
17.00	Cryptogenic Organizing Pneumonia	Yes
10.00	Pleuritis	Yes
Unk.	Growth delay	Yes
Unk.	Delayed puberty	Yes
10.00	Keratoconjunctivitis sicca	Yes
1.00	Food allergy	No
3.00	Varicella zoster virus infection	Yes	severe
12.00	Visual loss	Yes
2.00	Erythroderma	Yes
1.00	Abdominal pain	Yes
Unk.	Abnormality of the dentition	Yes
Unk.	anti-TPO antibodies	Yes
Unk.	Carious teeth	Yes
Unk.	Delayed eruption of teeth	Yes
Unk.	Neonatal insulin-dependent diabetes mellitus	No
10.00	Recurrent fevers	Yes
14.00	Recurrent fevers	Yes
Unk.	Recurrent infections	Yes
11.00	Peptic ulcer	Yes
10.00	Cystoid macular edema	Yes
10.00	Posterior uveitis	Yes
6.00	Oligoclonal T cell expansion	Yes
Unk.	Eosinopenia	Yes
14.00	Serositis	Yes
12.00	Bronchoconstriction	Yes
0.90	Autoimmune enteropathy	Yes
11.00	Gastrointestinal lymphocytic infiltration	Yes

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
	B cells	660	70 - 230	9.30	12.00 - 12.00	High
	CD4 T cells	789	458 - 1406	54.00	60.00 - 60.00	Normal
	naive CD4 T cells			50.00	45.00 - 45.00	High
	Naive CD8+ T cells			62.00	35.00 - 35.00	High
	central memory CD8 T cells			11.00	8.00 - 8.00	High
	Effector memory CD8 T cells			8.00	27.00 - 27.00	Low
	Effector memory CD8 TEMRA			19.00	33.00 - 33.00	Low
	Eosinophils	1	100 - 400			Low
	Basophils	1	1 - 100			Normal
	Platelets	267000	150000 - 360000			Normal
	Effector memory CD4 TEMRA			1.00	4.00 - 4.00	Low
	Effector memory CD4 T cells			5.00	11.00 - 11.00	Low
	central memory CD4 T cells			44.00	38.00 - 38.00	High
	plasmacytoid dendritic cells			0.06	0.10 - 0.30	Low
	CD8 T cells	570	200 - 1200	39.00	51.00 - 51.00	Normal
	Neutrophils	4800	1500 - 7500			Normal
	T cells	1462	700 - 2100	86.00	71.00 - 71.00	Normal
	Monocytoid dendritic cells			0.20	0.10 - 0.30	Normal
	Lymphocytes	1700	1000 - 4500			Normal
	Leukocytes	7100	3400 - 8200			Normal
	NK cells	12	90 - 600	0.70	12.00 - 12.00	Low
	Monocytes	600	200 - 800			Normal
12.00	Th 17 cells			0.13	0.47 - 1.59	Low
12.00	T-reg cells			1.45	2.30 - 7.80	Low
12.00	mature B cells			84.00	11.00 - 45.00	High
12.00	marginal zone B cells			19.50	7.20 - 30.80	Normal
12.00	memory B cells			23.00	15.00 - 45.00	Normal
12.00	transitional B cells			3.40	0.60 - 35.00	Normal
12.00	alpha-beta double-negative T cells			3.40	4.20 - 4.20	Low
12.00	CD21-/low B cells			12.10	0.60 - 3.50	High
12.00	gamma-delta T cells			6.00	6.00 - 6.00	Normal
12.00	alpha-beta T cells			94.00	94.00 - 94.00	Normal
12.00	class switched memory B cells			0.50	6.50 - 29.20	Low

* Measured under treatment or HSCT.

Molecule[ℹ]	Value	Ref.range	Result
IgA	167	52 - 402 mg/dL	Normal
IgG	580	680 - 1500 mg/dL	Low
IgM	338	47 - 284 mg/dL	High
IgE	1	1 - 110 IU/ml	Normal
IgG1	471	390 - 1000 mg/dL	Normal
IgG2	158	102 - 450 mg/dL	Normal
IgG3	130	14 - 102 mg/dL	High
IgG4	1	6 - 186 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-STAT3	📊 normal	Lymphocytes	FCA	Basal	888
Unk.	p-STAT3	📊 normal	CD8 T cells	FCA	Basal	888
Unk.	p-STAT3	📊 normal	CD4 T cells	FCA	Basal	888
Unk.	p-STAT3	📊 normal	double negative T cells	FCA	Basal	888
Unk.	Proportion of Th17 cells	📊 decreased	CD4 T cells	FCA	Basal	888

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* Compared to WT controls
📊 shows raw values on hover