Information on subject 103731
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
DADA2 |
Adenosine deaminase 2 deficiency | AR |
24.00 | 5.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| ADA2 |
G47R |
EX2 | c.139G>A | p.Gly47Arg | missense_variant | Pathogenic | HOM |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 17.00 | Abnormal weight loss |
Yes | ||
| 17.00 | Renal artery stenosis |
Yes | ||
| 5.00 | Myalgia |
Yes | ||
| 5.00 | Antinuclear antibodies |
No | ||
| Unk. | Anemia |
Yes | chronic | |
| 5.00 | Livedo reticularis |
Yes | ||
| 17.00 | Abdominal pain |
Yes | severe | |
| Unk. | Elevated C-reactive protein |
Yes | chronic | |
| Unk. | elevated ESR |
Yes | chronic | |
| 5.00 | elevated ESR |
Yes | severe | acute |
| 5.00 | Purpura |
Yes | ||
| Unk. | Panniculitis |
Yes | ||
| 17.00 | Renal artery aneurysm |
Yes | ||
| 5.00 | Antineutrophil antibodies |
No | ||
| 5.00 | Leukocytoclastic Vasculitis |
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 |
|---|---|---|---|---|
| 5.00 | CRP |
6 | 0 - 1 mg/L | High |
| 5.00 | Hb |
105 | 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
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