Information on subject 102730

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.2
2022 [783] Fam.1:III.2(III-2)

Genetic conditions

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
AIIDE	Autoinflammation, immune dysregulation, and eosinophilia	AD	2.00	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
0.01	Asthma	Yes		chronic
Unk.	Hypothyroidism	Yes
0.01	Atopic dermatitis	Yes	severe	chronic
0.01	Eosinophilia	Yes	severe	chronic
0.01	Thrombocytopenia	Yes
0.01	Lymphocytosis	Yes
0.01	Leukocytosis	Yes
0.01	short stature	Yes	severe	chronic
0.01	Anemia	Yes
0.01	Autoimmune thyroiditis	Yes		chronic
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
0.01	Neutrophilia	Yes
0.01	Monocytosis	Yes
Unk.	Conductive hearing impairment	Yes
0.01	Hepatosplenomegaly	Yes	severe	chronic
Unk.	Atrial septal defect	Yes
0.02	Increased hemoglobin	Yes
0.01	Decreased body weight	Yes	severe	chronic
Unk.	Abnormal inferior vena cava morphology	Yes
0.67	Severe parainfluenza infection	Yes
Unk.	Gastrointestinal eosinophilia	Yes
0.01	Gastrointestinal eosinophilia	Yes	severe	chronic

Cell counts

Age	Cell_type	Cells/ul	Ref.range	Result
0.03	Eosinophils	3100	1 - 500	High
0.08	Leukocytes	35620	6770 - 20100	High
0.10	Eosinophils	17100	1 - 500	High
0.17	Eosinophils	54590	1 - 500	High
0.20	Eosinophils	68880	1 - 500	High
0.22	Eosinophils	95920	1 - 500	High
0.34	Leukocytes	23480	5970 - 17510	High
0.53	Leukocytes	19100	5970 - 17310	High
0.54	Eosinophils	4600	1 - 500	High
0.62	Eosinophils	12300	1 - 500	High
0.81	Leukocytes	32240	5970 - 17110	High
0.95	Leukocytes	39800	6170 - 17110	High
0.96	Eosinophils	13850	1 - 500	High
1.06	Eosinophils	6150	1 - 500	High
1.42	Leukocytes	26470	5770 - 16720	High
1.73	Leukocytes	22690	5770 - 16320	High
1.75	Eosinophils	5810	1 - 500	High
1.81	Leukocytes	16720	5370 - 16720	Normal*
1.82	Eosinophils	1880	1 - 500	High*
1.92	Leukocytes	10750	5370 - 16120	Normal*
2.04	Eosinophils	2220	1 - 500	High*
2.18	Leukocytes	12740	5370 - 15920	Normal*
2.47	Leukocytes	11540	5370 - 15720	Normal*
2.50	Leukocytes	5174	5370 - 15720	Low*
2.69	Leukocytes	10150	5370 - 15720	Normal*
2.71	Eosinophils	1200	1 - 500	High*
2.86	Leukocytes	13530	5370 - 15720	Normal*
2.97	Leukocytes	14930	5370 - 15720	Normal*
3.15	Leukocytes	9150	5370 - 15720	Normal*
3.18	Eosinophils	1370	1 - 500	High*
3.49	Leukocytes	15120	5370 - 15720	Normal*
3.73	Leukocytes	11740	5370 - 15720	Normal*
4.02	Leukocytes	12140	5370 - 15720	Normal*
4.04	Eosinophils	1710	1 - 500	High*
4.23	Leukocytes	10950	5570 - 15320	Normal*
4.57	Leukocytes	11340	5570 - 15320	Normal*
4.73	Leukocytes	13130	5570 - 15320	Normal*
4.94	Leukocytes	11740	5570 - 15320	Normal*
4.95	Eosinophils	2390	1 - 500	High*
5.12	Leukocytes	13330	5570 - 15320	Normal*
5.67	Leukocytes	12140	5570 - 15320	Normal*
5.99	Leukocytes	10350	5570 - 15320	Normal*
6.00	Eosinophils	2735	1 - 500	High*
6.30	Leukocytes	13730	5570 - 15320	Normal*
6.67	Leukocytes	11740	5570 - 15320	Normal*
6.96	Leukocytes	11940	5570 - 15320	Normal*
7.04	Leukocytes	10350	5570 - 15320	Normal*
7.04	Eosinophils	2560	1 - 500	High*
7.75	Leukocytes	10150	5570 - 15320	Normal*
8.05	Eosinophils	3080	1 - 500	High*
8.06	Leukocytes	10350	5570 - 15320	Normal*

* Measured under treatment or HSCT.

Plasma proteins

Age	Molecule[ℹ]	Value	Ref.range	Result

[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