Information on subject 106555
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
DADA2 |
Adenosine deaminase 2 deficiency | AR |
11.00 | 1.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| ADA2 |
R169Q |
EX3 | c.506G>A | p.Arg169Gln | missense_variant | Pathogenic | HOM |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
Yes | ||
| 6.00 | Hypogammaglobulinemia |
Yes | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| Unk. | Eczema |
Yes | ||
| 1.00 | Arthralgia |
Yes | chronic | |
| Unk. | Seizures |
Yes | acute | |
| Unk. | Lymphadenopathy |
Yes | ||
| 6.00 | Lymphopenia |
Yes | severe | chronic |
| Unk. | Myalgia |
Yes | ||
| Unk. | Raynaud phenomenon |
Yes | ||
| Unk. | Antinuclear antibodies |
No | ||
| Unk. | Antiphospholipid antibody positive |
No | ||
| 1.00 | Vertigo |
Yes | ||
| Unk. | Hepatomegaly |
Yes | ||
| Unk. | erythema nodosum |
Yes | ||
| 1.00 | Varicella zoster virus infection |
Yes | acute | |
| 6.00 | Livedo reticularis |
Yes | ||
| 10.00 | Stroke |
Yes | ||
| Unk. | Headaches |
Yes | ||
| Unk. | Aphthous oral ulcer |
Yes | ||
| 10.00 | Inflammation |
Yes | mild | chronic |
| Unk. | Abdominal pain |
Yes | ||
| Unk. | Hemiparesis |
Yes | acute | |
| 1.00 | Sensorineural hearing impairment |
Yes | ||
| 1.00 | Diplopia |
Yes | ||
| Childhood | Decreased growth hormone levels |
Yes | ||
| Unk. | Ataxia |
Yes | acute | |
| 6.00 | Hepatosplenomegaly |
Yes | acute | |
| 6.00 | Unexplained fevers |
Yes | ||
| Unk. | Prolonged partial thromboplastin time |
Yes | mild | |
| Unk. | Prolonged prothrombin time |
No | ||
| Unk. | Resistance to activated protein C |
Yes | ||
| Unk. | Lupus anticoagulants |
No | ||
| Unk. | Non-periodic recurrent fever |
Yes | recurrent | |
| Unk. | Hypercoagulability |
Yes | ||
| Unk. | Antineutrophil antibodies |
No |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| B cells |
24 | 119 - 578 | Low | |||
| Naive CD8+ T cells |
86.10 | 62.00 - 86.00 | High | |||
| naive CD4 T cells |
53.10 | 49.00 - 72.00 | Normal | |||
| CD4 T cells |
235 | 608 - 1217 | Low | |||
| CD8 T cells |
84 | 228 - 577 | Low | |||
| Neutrophils |
390 | 1800 - 8500 | Low | |||
| NK cells |
70 | 100 - 700 | Low | |||
| Leukocytes |
1100 | 4500 - 13000 | Low | |||
| Lymphocytes |
480 | 1200 - 5200 | Low | |||
| Platelets |
39000 | 150000 - 450000 | Low |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| IgA |
11 | 70 - 360 mg/dL | Low | |
| IgG |
236 | 520 - 1560 mg/dL | Low | |
| IgM |
19 | 28 - 240 mg/dL | Low | |
| Hb |
97 | 139 - 172 g/L | Low | |
| AST |
78 | 0 - 35 IU/L | High | |
| ALT |
68 | 0 - 35 IU/L | High |
[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, severely | Plasma |
EA | Basal | 487 |
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover