Information on subject 103786
Basic details
Sex: Male
Country: Turkey
Population: Turkish
Consanguinity: Unknown
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2014 [385] T-1
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
DADA2 |
Adenosine deaminase 2 deficiency | AR |
28.00 | 10.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| ADA2 |
G47V |
EX2 | c.140G>T | p.Gly47Val | missense_variant | Pathogenic | HET |
Yes, part of genotype |
| ADA2 |
W264S |
EX5 | c.791G>C | p.Trp264Ser | missense_variant | Pathogenic | HET |
Yes, part of genotype |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 10.00 | Abnormal weight loss |
Yes | severe | |
| 10.00 | Hypertension |
Yes | severe | |
| Unk. | Renal artery stenosis |
Yes | ||
| 10.00 | Fever |
Yes | ||
| 10.00 | Myalgia |
Yes | ||
| 10.00 | Antinuclear antibodies |
Yes | ||
| Unk. | Anemia |
Yes | ||
| 10.00 | Anemia |
Yes | ||
| Unk. | Livedo reticularis |
Yes | ||
| Unk. | Thrombocytosis |
Yes | ||
| 10.00 | Elevated C-reactive protein |
Yes | ||
| 10.00 | elevated ESR |
Yes | severe | |
| Unk. | Abdominal aortic aneurysm |
Yes | ||
| Unk. | Panniculitis |
Yes | ||
| Unk. | Renal artery aneurysm |
Yes | ||
| Unk. | Necrotizing vasculitis |
Yes | ||
| Unk. | Renal Infarct |
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 |
|---|---|---|---|---|
| 10.00 | CRP |
13 | 0 - 1 mg/L | High |
| 10.00 | Hb |
81 | 116 - 146 g/L | Low |
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* Measured during IVIG or other treatment.
Phenotypic & functional assays
| Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
|---|
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* Compared to WT controls
📊 shows raw values on hover