Information on subject 106875

Basic details

Sex: Female

Country: Japan

Population: Japanese

Family ID: 216179

Father: 106876

Mother: 106877

Consanguinity: Unknown

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2021 [529] Fam.4:II.3(P6)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
DADA2 Adenosine deaminase 2 deficiency ARdict. icon 17.00 5.00 Definitive

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
ADA2 -48-49X EX2 c.144dup p.Arg49AlafsTer13 frameshift_variant Pathogenic HETdict. icon Yes, part of genotype
ADA2 L92V EX2 c.274C>G p.Leu92Val missense_variant Uncertain significance HETdict. icon Yes, part of genotype
ADA2 F355L EX7 c.1065C>A p.Phe355Leu missense_variant Uncertain significance HETdict. icon Unlikely

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Decreased IgG levelsarrow icon No
Unk. Decreased IgM levelsarrow icon No
Unk. Splenomegalyarrow icon No
Unk. Pancytopeniaarrow icon No
Unk. Arthritisarrow icon No
Unk. Hypertensionarrow icon Yes
Unk. Arthralgiaarrow icon Yes
Unk. Thrombocytopeniaarrow icon No
Unk. Lymphadenopathyarrow icon No
Unk. Lymphopeniaarrow icon No
Unk. Feverarrow icon Yes
Unk. Myalgiaarrow icon Yes
Unk. Raynaud phenomenonarrow icon No
Unk. Elevated hepatic transaminasesarrow icon No
Unk. Portal hypertensionarrow icon No
Unk. Anemiaarrow icon Yes
Unk. Hepatomegalyarrow icon Yes
Childhood Splenic Infarctionarrow icon Yes recurrent
Unk. Granulocytopeniaarrow icon No
Unk. Peripheral nervous system abnormalityarrow icon No
Unk. Pure red cell aplasiaarrow icon No
Unk. Autoimmune antibody positivityarrow icon No
Childhood Cerebral infarctarrow icon Yes recurrent
0.42 Skin rasharrow icon Yes recurrent
0.42 Abdominal painarrow icon Yes
Unk. Elevated C-reactive proteinarrow icon Yes
Unk. Purpuraarrow icon No
Unk. Myositisarrow icon No
Unk. Nephropathyarrow icon No
Unk. Abnormality of the eyearrow icon No
Unk. Abnormal cranial nerve morphologyarrow icon Yes
Childhood Cerebral hemorrhagearrow icon Yes
Unk. Subcutaneous nodulearrow icon No
Unk. Vascular dilatationarrow icon Yes
Unk. Abnormal digit morphologyarrow icon No
Unk. Intestinal perforationarrow icon No
0.42 Livedo racemosaarrow icon Yes
Unk. Skin ulcerarrow icon No
Childhood Renal Infarctarrow icon Yes recurrent

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. ADA2 enzymatic activity decreased Plasmaarrow icon EA Basal 529
Unk. ADA2 mRNA expression normal Phagocytesarrow icon RT-PCR Basal 529

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