Information on subject 102729

Basic details

Sex: Male

Country: Canada

Population: Canadian

Family ID: 214981

Father: 102726

Mother: 102719

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes

2017 [692] Fam.1:III.1
2022 [783] Fam.1:III.1(III-1)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
AIIDE	Autoinflammation, immune dysregulation, and eosinophilia	AD	6.00	0.01

Genetic variants

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
JAK1	A634D	EX14	c.1901C>A	p.Ala634Asp	missense_variant	Pathogenic	HET	Yes, alone

Clinical manifestations

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Urticaria	Yes		recurrent
0.01	Asthma	Yes	severe	chronic
Unk.	Hypothyroidism	Yes
0.01	Atopic dermatitis	Yes	severe	chronic
0.01	Eosinophilia	Yes	severe	chronic
0.05	Lymphocytosis	Yes
0.05	Leukocytosis	Yes
1.40	Increased IgE levels	Yes
0.01	short stature	Yes	moderate	chronic
Unk.	Pruritus	Yes
0.01	Autoimmune thyroiditis	Yes
0.01	Hepatic cyst	Yes
Unk.	Hepatic fibrosis	Yes
0.01	Failure to thrive	Yes	moderate
0.01	Food allergy	Yes	moderate	chronic
0.01	(unusual) Viral infection	Yes		recurrent
0.05	Neutrophilia	Yes
0.05	Monocytosis	Yes
Unk.	obstructive lung disease	Yes		chronic
0.01	Hepatosplenomegaly	Yes	severe	chronic
Unk.	Patent foramen ovale	Yes
Unk.	Arnold-Chiari malformation	Yes
0.01	Decreased body weight	Yes	severe	chronic
Unk.	Poor appetite	Yes
Unk.	Abnormal inferior vena cava morphology	Yes
Unk.	Gastrointestinal eosinophilia	Yes
0.01	Gastrointestinal eosinophilia	Yes	severe	chronic

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Result
0.00	Eosinophils	10000	1 - 500	High
0.20	Eosinophils	70000	1 - 500	High
0.32	Leukocytes	37600	6000 - 17300	High
0.60	Eosinophils	10000	1 - 500	High
0.65	Eosinophils	5240	1 - 500	High
0.71	Leukocytes	17310	5970 - 17300	High
1.20	Eosinophils	6450	1 - 500	High
1.39	Leukocytes	31040	5770 - 16520	High
1.59	Eosinophils	20670	1 - 500	High
1.60	Leukocytes	45570	5770 - 16520	High
1.99	Eosinophils	10280	1 - 500	High
2.02	Leukocytes	26470	5370 - 16520	High
2.21	Eosinophils	9980	1 - 500	High
2.65	Leukocytes	34630	5370 - 15720	High
3.07	Leukocytes	29250	5370 - 15720	High
3.08	Eosinophils	12700	1 - 500	High
3.34	Eosinophils	12000	1 - 500	High
3.99	Eosinophils	10480	1 - 500	High
3.99	Leukocytes	24080	5370 - 15520	High
4.39	Leukocytes	21490	5370 - 15520	High
4.50	Eosinophils	10890	1 - 500	High
4.75	Leukocytes	36220	5570 - 15720	High
5.18	Eosinophils	9275	1 - 500	High
5.49	Leukocytes	24480	5570 - 15720	High
5.73	Eosinophils	9475	1 - 500	High
6.01	Leukocytes	27660	5570 - 15720	High
6.09	Eosinophils	10690	1 - 500	High
6.12	Leukocytes	22690	5570 - 15720	High*
6.16	Eosinophils	4540	1 - 500	High*
6.20	Eosinophils	1210	1 - 500	High*
6.35	Leukocytes	8560	5570 - 15720	Normal*
6.64	Leukocytes	9550	5570 - 15720	Normal*
6.85	Leukocytes	12740	5570 - 15720	Normal*
7.03	Eosinophils	2120	1 - 500	High*
7.14	Leukocytes	12140	5570 - 15720	Normal*
7.33	Leukocytes	17710	5570 - 15720	High*
7.48	Leukocytes	11740	5570 - 15720	Normal*
7.64	Leukocytes	12740	5570 - 15720	Normal*
7.90	Leukocytes	8760	5570 - 15720	Normal*
8.16	Eosinophils	1915	1 - 500	High*
8.17	Leukocytes	9750	5570 - 15720	Normal*
8.38	Leukocytes	11140	5570 - 15720	Normal*
8.59	Leukocytes	10350	5570 - 15720	Normal*
8.88	Eosinophils	1110	1 - 500	High*
8.88	Leukocytes	4975	5570 - 15720	Low*
9.11	Leukocytes	11540	5570 - 15720	Normal*
9.29	Leukocytes	9350	5570 - 15720	Normal*
9.83	Eosinophils	2720	1 - 500	High*
9.85	Leukocytes	10350	5570 - 15720	Normal*
10.45	Leukocytes	11340	5370 - 14530	Normal*
10.85	Leukocytes	8960	4975 - 13530	Normal*
11.13	Eosinophils	1610	1 - 500	High*
11.15	Leukocytes	7960	4580 - 12740	Normal*
11.92	Leukocytes	8760	4380 - 11340	Normal*
11.93	Eosinophils	1915	1 - 500	High*
12.34	Leukocytes	7960	3980 - 10550	Normal*

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result
1.37	IgE	40200	1 - 100 IU/ml	High
1.41	IgE	80400	1 - 100 IU/ml	High
4.40	IgE	33850	1 - 100 IU/ml	High
4.50	IgE	48100	1 - 100 IU/ml	High
4.97	IgE	40200	1 - 100 IU/ml	High
5.20	IgE	25300	1 - 100 IU/ml	High
5.70	IgE	26900	1 - 100 IU/ml	High
7.64	IgE	7600	1 - 100 IU/ml	High*
9.28	IgE	7300	1 - 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.	p-STAT1	increased	EBV-LCL	WB	Basal, IFN-a	692
Unk.	p-STAT3	normal	T cells	FACS	Basal	692
Unk.	p-STAT3	increased	T cells	FACS	IL-6	692
Unk.	JAK1 mRNA expression	normal	Blood cells	qPCR	Basal	692
Unk.	JAK1 protein expression	normal	EBV-LCL	WB	Basal	692

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