Information on subject 105046

Basic details

Sex: Male

Country: Czech Republic

Population:

Family ID: 215632

Father: 105047

Mother: 105048

Consanguinity: No

Clin. status: Affected

Age of death: 6.2

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
IMAD1	Infantile-Onset Multisystem Autoimmune Disease 1	AD	5.50	0.92

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
STAT3	P715L	EX22	c.2144C>T	p.Pro715Leu	missense_variant	Pathogenic	HET	Yes, alone

Age	Sign/Symptom	Present?	Severity
Unk.	Reduced number of B cells	No
6.00	Abnormal lymphoproliferation	Yes	severe
3.50	Autoimmune thrombocytopenia	Yes
5.50	Autoimmune thrombocytopenia	Yes
1.50	Generalized lymphadenopathy	Yes
2.50	Hypothyroidism	Yes
Unk.	Reduced NK cell number	Yes
5.50	Autoimmune neutropenia	Yes	severe
0.92	Type I diabetes mellitus	Yes
Unk.	Antinuclear antibodies	No
Unk.	Increased IgE levels	No
5.50	short stature	Yes
2.50	Autoimmune thyroiditis	Yes
Unk.	Reduced T cell count	No
0.92	Failure to thrive	Yes
Unk.	Facial dysmorphism	Yes	mild
Unk.	Brachycephaly	Yes
Unk.	Delayed eruption of teeth	Yes
2.00	Hepatosplenomegaly	Yes
-0.50	Intrauterine growth retardation	Yes
Unk.	Decreased proportion of regulatory T cells	Yes
5.50	Decreased insulin-like growth factor 1	Yes
6.00	Hematopoietic stem cell transplantation	Yes
Unk.	Antigliadin antibody positivity	No
Unk.	Antineutrophil antibodies	No

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result

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* Measured during IVIG or other treatment.

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
Unk.	p-STAT1	decreased	PBMCs	FCA	IFN-g	890
Unk.	p-STAT5	decreased	PBMCs	FCA	IL-2	890

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* Compared to WT controls
📊 shows raw values on hover