Information on subject 101544
Basic details
Sex: Female
Country: Germany
Population:
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F180:P180
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
STAT1 |
V266I |
EX10 | c.796G>A | p.Val266Ile | missense_variant | Risk allele | HET |
Uncertain |
| PIK3CD |
T739P |
EX17 | c.2215A>C | p.Thr739Pro | missense_variant | Uncertain significance | lowAF |
Unlikely |
| KIDINS220 |
E1389D |
EX30 | c.4167A>C | p.Glu1389Asp | missense_variant | Uncertain significance | HET |
Uncertain |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Allergy |
Yes | ||
| Unk. | Granulomatosis |
Yes | ||
| Unk. | Lymphadenopathy |
Yes | ||
| Unk. | Hematological neoplasm |
Yes | ||
| Unk. | Interstitial lung disease |
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 |
|---|
[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