Information on subject 102226
Basic details
Sex: Female
Country: Russia
Population: Russian
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2022 [537] P094
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
APDS2 |
Activated p110-d syndrome 2 | AD |
14.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| PIK3R1 |
EX11+1G>C |
IN11 | c.1425+1G>C | EX11-skipping | splice_donor_variant | Pathogenic | HET |
Yes, alone |
| PSTPIP1 |
EX2_12-DUP |
EX2-12 | c.37_929dup | p.? | sequence_variant | Uncertain significance | HET |
Uncertain |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Increased proportion of transitional B cells |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | severe |
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. |
|---|
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover