Information on subject 101076
Basic details
Sex: Female
Country: Germany
Population: German
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F041:P041
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 |
|---|---|---|---|---|---|---|---|---|
TRAF3IP2 |
D19N |
EX3 | c.55G>A | p.Asp19Asn | missense_variant | Risk allele | HET |
Unassigned |
| TPP2 |
EX17-7del |
IN16 | c.2021-10_2021-7del | splice_region_variant | Uncertain significance | lowAF |
Unassigned |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 37.00 | Diarrhea |
Yes | chronic | |
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 8.75 | Decreased IgA levels |
Yes | ||
| 8.73 | Splenomegaly |
Yes | ||
| Unk. | Reduced proportion of naive CD4 T cells |
Yes | ||
| 47.46 | Allergy |
Yes | ||
| 46.87 | Migraine |
Yes | ||
| 52.58 | Non-Hodgkin lymphoma |
Yes | ||
| 9.50 | Pyelonephritis |
Yes | ||
| 49.87 | Arthritis |
Yes | ||
| 46.87 | cholelithiasis |
Yes | ||
| 11.42 | Salmonella infection |
Yes | ||
| 8.75 | Pneumonia |
Yes | ||
| 46.34 | Gastritis |
Yes | chronic | |
| 18.85 | Sinusitis |
Yes | recurrent | |
| 18.00 | Otitis media |
Yes | recurrent | |
| 50.03 | Lactose intolerance |
Yes | ||
| 8.73 | Lymphadenopathy |
Yes | ||
| 11.00 | Septicaemia |
Yes | ||
| 22.93 | Bronchiectasis |
Yes | ||
| 9.76 | Bacterial meningitis |
Yes | recurrent | |
| 48.13 | Acute kidney failure |
Yes | ||
| 52.58 | Campylobacter infection |
Yes | ||
| 46.87 | Thyroid gland abnormality |
Yes | ||
| 43.00 | Pleuritis |
Yes | ||
| 22.00 | hemoptysis |
Yes | ||
| Unk. | Vulvovaginal candidiasis |
Yes | recurrent | |
| 50.66 | Hepatitis |
Yes | chronic | |
| 37.78 | Malnutrition |
Yes | ||
| 48.13 | Growth delay |
Yes | ||
| 48.13 | Osteomalacia |
Yes | ||
| 46.36 | Crohn's disease |
Yes | ||
| 48.13 | Hypogonadism |
Yes | ||
| 10.98 | Varicella zoster virus infection |
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. |
|---|
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover