Information on subject 103877

Basic details

Sex: Female

Country: Finland

Population: Finnish

Family ID: 215266

Father: 103990

Mother: 103989

Consanguinity: Unknown

Clin. status: Affected

Age of death:

Ref.ID & pub.codes

2014 [320] P2
2015 [888] Fam.2:II.2(Patient 2)
2022 [1352] Pt2

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
IMAD1	Infantile-Onset Multisystem Autoimmune Disease 1	AD	15.00	0.01

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
STAT3	K392R	EX13	c.1175A>G	p.Lys392Arg	missense_variant	Pathogenic	HET	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
1.00	Diarrhea	Yes		chronic
12.00	Hypogammaglobulinemia	Yes
12.00	Decreased IgA levels	Yes
12.00	Decreased IgG levels	Yes
1.00	Recurrent lower respiratory tract infections	Yes
Unk.	Decreased IgM levels	No
Unk.	Autoimmune hemolytic anemia	Yes
Unk.	Autoimmune cytopenia	Yes
Unk.	Allergy	Yes	severe
Unk.	Reduced ab-response to pneumococcal polysaccharide vaccine	No
Unk.	Pneumonia	Yes		recurrent
Unk.	Eczema	Yes	mild
1.00	Asthma	Yes
Unk.	Reduced ab-response to tetanus vaccine	No
Unk.	negative ab-response to diphtheria vaccine	No
Unk.	Atopic dermatitis	Yes	mild
12.00	Reduced NK cell number	Yes
1.00	Villous atrophy	Yes
2.00	Lymphadenopathy	Yes		recurrent
12.00	Myalgia	Yes
12.00	Antinuclear antibodies	No
Unk.	Increased IgE levels	No
10.00	Pulmonary fibrosis	Yes
Unk.	Growth delay	Yes
1.00	Celiac disease	Yes
0.00	Premature birth	Yes
Unk.	Delayed puberty	Yes
1.00	Failure to thrive	Yes
1.00	Food allergy	Yes
15.00	Increased T cell count	Yes
14.00	T-cell large granular lymphocyte leukemia	Yes
Unk.	Abnormality of the dentition	Yes
Unk.	anti-TPO antibodies	No
Unk.	Carious teeth	Yes
0.01	Neonatal insulin-dependent diabetes mellitus	Yes
0.00	Small for gestational age	Yes
14.00	Megaloblastic anemia	Yes
Unk.	Arterial thrombosis	Yes		recurrent
3.00	Desquamative interstitial pneumonitis	Yes
12.00	Eosinopenia	Yes
12.00	Antineutrophil antibodies	No
Unk.	Autoimmune enteropathy	Yes
1.00	Gastrointestinal lymphocytic infiltration	Yes

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
	alpha-beta T cells			93.00	94.00 - 94.00	Low
	Naive CD8+ T cells			8.00	35.00 - 35.00	Low
	Effector memory CD8 TEMRA			86.00	33.00 - 33.00	High
	central memory CD8 T cells			3.00	8.00 - 8.00	Low
	Effector memory CD4 T cells			22.00	11.00 - 11.00	High
	naive CD4 T cells			24.00	45.00 - 45.00	Low
	Effector memory CD4 TEMRA			1.00	4.00 - 4.00	Low
	alpha-beta double-negative T cells			2.30	4.20 - 4.20	Low
	central memory CD4 T cells			54.00	38.00 - 38.00	High
	gamma-delta T cells			7.00	6.00 - 6.00	High
	CD21-/low B cells			22.50	0.60 - 3.50	High
	class switched memory B cells			0.50	6.50 - 29.20	Low
	transitional B cells			0.00	0.60 - 35.00	Low
	memory B cells			26.00	15.00 - 45.00	Normal
	marginal zone B cells			24.90	7.20 - 30.80	Normal
	mature B cells			70.00	11.00 - 45.00	High
	T-reg cells			0.67	2.30 - 7.80	Low
	Th 17 cells			0.35	0.47 - 1.59	Low
	Effector memory CD8 T cells			4.00	27.00 - 27.00	Low
12.00	Eosinophils	0	100 - 400			Low
12.00	Platelets	266000	150000 - 360000			Normal
12.00	Basophils	0	0 - 100			Normal
12.00	CD4 T cells	380	458 - 1406	34.80	60.00 - 60.00	Low
12.00	Monocytes	370	200 - 800			Normal
12.00	NK cells	38	90 - 600	0.50	12.00 - 12.00	Low
12.00	Lymphocytes	1270	1000 - 4500			Normal
12.00	B cells	174	70 - 230	14.00	12.00 - 12.00	Normal
12.00	Neutrophils	5830	1500 - 7500			Normal
12.00	T cells	1092	700 - 2100	86.00	71.00 - 71.00	Normal
12.00	CD8 T cells	339	200 - 1200	31.00	51.00 - 51.00	Normal
12.00	Leukocytes	7500	3400 - 8200			Normal
15.00	T cells	3507	700 - 2100	82.00	71.00 - 71.00	High
15.00	plasmacytoid dendritic cells			0.01	0.10 - 0.30	Low
15.00	Lymphocytes	4278	1000 - 4500			Normal
15.00	Platelets	290000	150000 - 360000			Normal
15.00	Basophils	182	0 - 100			High
15.00	Leukocytes	6900	3400 - 8200			Normal
15.00	Eosinophils	10	100 - 400			Low
15.00	NK cells	128	90 - 600	3.00	12.00 - 12.00	Normal
15.00	Monocytes	690	200 - 800			Normal
15.00	CD8 T cells	1790	200 - 1200	51.00	51.00 - 51.00	High
15.00	Neutrophils	1750	1500 - 7500			Normal
15.00	CD4 T cells	666	458 - 1406	19.00	60.00 - 60.00	Normal
15.00	Monocytoid dendritic cells			0.01	0.10 - 0.30	Low

* Measured under treatment or HSCT.

Plasma proteins

Molecule[ℹ]	Value	Ref.range	Result
IgA	21	52 - 402 mg/dL	Low
IgG	280	680 - 1500 mg/dL	Low
IgM	144	47 - 284 mg/dL	Normal
IgE	1	1 - 110 IU/ml	Normal
IgG1	85	390 - 1000 mg/dL	Low
IgG2	146	102 - 450 mg/dL	Normal
IgG3	27	14 - 102 mg/dL	Normal
IgG4	0	6 - 186 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.	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

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