Information on subject 106850

Basic details

Sex: Male

Country: U.S.A.

Population: Caucasian

Family ID: 216169

Father: 106848

Mother: 106849

Consanguinity: No

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]
DADA2	Adenosine deaminase 2 deficiency	AR	43.00	5.00	Definitive

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
ADA2	V458D	EX9	c.1373T>A	p.Val458Asp	missense_variant	Pathogenic	HET	Yes, part of genotype
ADA2	EX7-2A>G	IN6	c.973-2A>G		splice_acceptor_variant	Pathogenic	HET	Yes, part of genotype

Age	Sign/Symptom	Present?	Severity	Presentation
43.00	Hypogammaglobulinemia	No
43.00	Abnormal lymphoproliferation	No
8.00	Hodgkin lymphoma	Yes	severe	progressive
43.00	Reduced ab-response to tetanus vaccine	No
43.00	Lymphopenia	No
43.33	Myalgia	Yes		progressive
43.00	Reduced proportion of CD8 T cells	Yes	mild
Unk.	Esophageal varices	Yes
43.33	Fatigue	Yes		progressive
29.00	Pulmonary Hypertension	Yes
29.00	Congestive heart failure	Yes
Childhood	Polyarthritis	Yes
26.00	Rectal bleeding	Yes		acute
5.00	Juvenile rheumatoid arthritis	Yes		chronic
24.00	Bilateral sensorineural hearing impairment	Yes	severe	acute
Unk.	Obstruction of the superior vena cava	Yes
24.00	Hypoesthesia	Yes		acute

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result
43.00	CD8 T cells	83	120 - 1320			Low

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result
43.00	CRP	46	0 - 5 mg/L	High
43.33	CRP	5	0 - 5 mg/L	Normal*

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* Measured during IVIG or other treatment.

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.
43.00	ADA2 enzymatic activity	decreased	Serum	EA	Basal	383

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* Compared to WT controls
📊 shows raw values on hover