Information on subject 106857

Basic details

Sex: Female

Country:

Population: Caucasian

Family ID: 216173tree icon

Father: 106855

Mother: 106856

Consanguinity: Unknown

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2019 [576] Fam.5:II.2(P6)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
DADA2 Adenosine deaminase 2 deficiency ARdict. icon 3.00 0.83 Definitive

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
ADA2 L351Q EX7 c.1052T>A p.Leu351Gln missense_variant Pathogenic HOMdict. icon Yes, alone

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Infancy Decreased IgM levelsarrow icon Yes
3.00 Neutropeniaarrow icon Yes
Infancy Scleritisarrow icon No
0.33 Septicaemiaarrow icon Yes
3.00 Feverarrow icon Yes
0.33 Elevated hepatic transaminasesarrow icon Yes chronic
3.00 Antinuclear antibodiesarrow icon No
Infancy Uveitisarrow icon No
Infancy Skin abnormalityarrow icon No
Infancy Episcleritisarrow icon No
Infancy Strokearrow icon Yes
3.00 Inflammationarrow icon Yes
Infancy Abnormal retinal morphologyarrow icon No
Infancy Blurred visionarrow icon Yes
Infancy Abnormality of the vasculaturearrow icon No
0.83 Oculomotor nerve palsyarrow icon Yes
Infancy Intestinal perforationarrow icon Yes
3.50 Graft Versus Host Diseasearrow icon Yes mild

Cell counts

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

* 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. secreted ADA2 levels decreased, mildly Serumarrow icon WB Basal 576
Unk. ADA2 enzymatic activity decreased Serumarrow icon EA Basal 576

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