Information on subject 106862
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
DADA2 |
Adenosine deaminase 2 deficiency | AR |
16.00 | 9.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| ADA2 |
G358R |
EX7 | c.1072G>A | p.Gly358Arg | missense_variant | Pathogenic | HET |
Yes, part of genotype |
| ADA2 |
Y227C |
EX4 | c.680A>G | p.Tyr227Cys | missense_variant | Uncertain significance | HET |
Yes, part of genotype |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 9.00 | Decreased IgG levels |
Yes | ||
| 9.00 | Decreased IgM levels |
Yes | ||
| Unk. | Pancytopenia |
No | ||
| Unk. | Arthritis |
Yes | ||
| Unk. | Hypertension |
No | ||
| Unk. | Arthralgia |
Yes | ||
| Unk. | Thrombocytopenia |
No | ||
| Unk. | Lymphopenia |
No | ||
| 9.00 | Fever |
Yes | ||
| Unk. | Myalgia |
Yes | ||
| Unk. | Raynaud phenomenon |
No | ||
| Unk. | Elevated hepatic transaminases |
No | ||
| Unk. | Portal hypertension |
No | ||
| Unk. | Anemia |
No | ||
| 9.00 | Lower limb pain |
Yes | ||
| Unk. | Granulocytopenia |
No | ||
| Unk. | Peripheral nervous system abnormality |
Yes | ||
| Unk. | Pure red cell aplasia |
No | ||
| Unk. | Autoimmune antibody positivity |
No | ||
| 11.00 | Cerebral infarct |
Yes | mild | |
| Unk. | Abdominal pain |
No | ||
| Unk. | Elevated C-reactive protein |
Yes | ||
| Unk. | Purpura |
No | ||
| Unk. | Abnormal cranial nerve morphology |
Yes | ||
| Unk. | Subcutaneous nodule |
No | ||
| 10.00 | Subarachnoid hemorrhage |
Yes | ||
| Unk. | Recurrent infections |
No | ||
| 10.00 | Dilatation of the cerebral artery |
Yes | ||
| 9.00 | Juvenile rheumatoid arthritis |
Yes | ||
| Unk. | Abnormal digit morphology |
No | ||
| Unk. | Intestinal perforation |
No | ||
| Unk. | Livedo racemosa |
Yes | ||
| Unk. | Skin ulcer |
No | ||
| 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 |
|---|---|---|---|---|
| 9.00 | IgG |
310 | 700 - 1600 mg/dL | Low |
| 9.00 | IgM |
20 | 74 - 310 mg/dL | Low |
[ℹ] shows name on hover
* Measured during IVIG or other treatment.
Phenotypic & functional assays
| Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
|---|---|---|---|---|---|---|
| Unk. | ADA2 enzymatic activity | decreased | Plasma |
EA | Basal | 529 |
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover