Information on subject 103740

Basic details

Sex: Female

Country: Israel

Population: Georgian Jewish

Family ID: 215233tree icon

Father: 103736

Mother: 103737

Consanguinity: Unknown

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2014 [385] Fam.B:III.2(B-III-2)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
DADA2 Adenosine deaminase 2 deficiency ARdict. icon 18.00 2.00

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 No

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
2.50 Arthritisarrow icon Yes
2.50 Myalgiaarrow icon Yes
2.50 Antinuclear antibodiesarrow icon No
2.50 Maculopapular exanthemaarrow icon Yes
2.50 Livedo reticularisarrow icon Yes
Unk. Peripheral neuropathyarrow icon Yes
2.50 elevated ESRarrow icon Yes moderate
Unk. Sensorineural hearing impairmentarrow icon Yes chronic
Unk. Subcutaneous nodulearrow icon Yes
2.50 Antineutrophil antibodiesarrow icon No
Unk. Necrotizing vasculitisarrow icon Yes
2.50 Leukocytoclastic 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
2.50 Hbarrow icon 118 102 - 138 g/L Normal

[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