Information on subject 103768
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
DADA2 |
Adenosine deaminase 2 deficiency | AR |
18.00 | 1.00 | Definitive |
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 |
|---|---|---|---|---|
| 1.00 | Arthritis |
Yes | ||
| 1.00 | Myalgia |
Yes | ||
| 1.00 | Raynaud phenomenon |
Yes | ||
| 1.00 | Antinuclear antibodies |
No | ||
| 14.00 | Polyneuropathy |
Yes | severe | |
| 1.00 | Livedo reticularis |
Yes | ||
| Unk. | Peripheral neuropathy |
Yes | ||
| 1.00 | elevated ESR |
Yes | ||
| 1.00 | Antineutrophil antibodies |
No | ||
| 14.00 | Leg ulcer |
Yes | severe | 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 |
|---|---|---|---|---|
| 1.00 | CRP |
5 | 0 - 1 mg/L | High |
| 1.00 | Hb |
119 | 102 - 138 g/L | Normal |
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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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