Information on subject 104307
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
HIES1 |
Hyper-IgE recurrent infection syndrome 1 | AD |
17.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| STAT3 |
T412S |
EX14 | c.1234A>T | p.Thr412Ser | missense_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Lung disease |
Yes | ||
| 17.00 | Leukopenia |
Yes | ||
| Unk. | Pneumonia |
Yes | ||
| Unk. | Sinusitis |
Yes | recurrent | |
| 17.00 | Fever |
Yes | ||
| 17.00 | Myalgia |
Yes | ||
| Unk. | Increased IgE levels |
Yes | ||
| Unk. | Recurrent impetigo |
Yes | ||
| 17.00 | Headaches |
Yes | ||
| Unk. | Frequent skin infections |
Yes | ||
| Unk. | Recurrent S. aureus infections |
Yes | ||
| Unk. | Brain abscess |
Yes | ||
| 17.00 | Coccidioidal meningitis |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 17.00 | Lymphocytes |
62.00 | 29.80 - 39.60 | High | ||
| 17.00 | Leukocytes |
384 | 4000 - 10400 | Low | ||
| 17.00 | Neutrophils |
36.00 | 40.00 - 60.00 | Low | ||
| 17.00 | Eosinophils |
2.00 | 1.00 - 4.00 | Normal |
* 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