Information on subject 103745

Basic details

Sex: Male

Country: Israel

Population: Georgian Jewish

Family ID: 215234tree icon

Father: 103746

Mother: 103747

Consanguinity: Unknown

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2014 [385] Fam.C:II.3(C-II-3)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
DADA2 Adenosine deaminase 2 deficiency ARdict. icon 20.00 6.00 Definitive

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
ADA2 G47R EX2 c.139G>A p.Gly47Arg missense_variant Pathogenic HOMdict. icon Yes, alone

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Diarrheaarrow icon Yes severe
6.50 Abnormal weight lossarrow icon Yes severe
6.50 Feverarrow icon Yes acute
6.50 Myalgiaarrow icon Yes severe
6.50 Antinuclear antibodiesarrow icon No
6.50 Anemiaarrow icon Yes
6.50 Livedo reticularisarrow icon Yes
6.50 Abdominal painarrow icon Yes severe
6.50 Elevated C-reactive proteinarrow icon Yes mild
6.50 elevated ESRarrow icon Yes
6.50 Subcutaneous nodulearrow icon Yes
6.50 Testicular painarrow icon Yes severe
6.50 Antineutrophil antibodiesarrow icon No
Unk. Necrotizing vasculitisarrow icon Yes

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
6.50 CRParrow icon 9 0 - 1 mg/L High
6.50 Hbarrow icon 85 116 - 146 g/L Low

[ℹ] shows name on hover
* Measured during IVIG or other treatment.

Phenotypic & functional assays

Age Parameter[ℹ] Result* Cells Methods[ℹ] Stimuli Ref.

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