Information on subject 101473
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID8 |
Immunodeficiency, common variable, 8 | AR |
8.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| LRBA |
A1123Sfs*2 |
EX23 | c.3366_3367insA | p.Ala1123SerfsTer2 | frameshift_variant | Pathogenic | HOM |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 4.00 | Reduced number of B cells |
Yes | ||
| 0.67 | Splenomegaly |
Yes | ||
| 2.00 | Autoimmune thrombocytopenia |
Yes | ||
| 5.00 | Enteropathy |
Yes | ||
| 0.83 | Pneumonia |
Yes | ||
| 4.00 | Reduced NK cell number |
Yes | ||
| 2.30 | B-cell lymphoma |
Yes | ||
| 0.67 | Type I diabetes mellitus |
Yes | ||
| 4.00 | Bronchiectasis |
Yes | ||
| 2.00 | Meningitis |
Yes | ||
| 0.83 | (unusual) Epstein-Barr virus infection |
Yes | severe | |
| 0.67 | Hepatomegaly |
Yes | ||
| 3.00 | Herpes zoster meningitis |
Yes | ||
| 0.67 | Oral candidiasis |
Yes | chronic |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 4.00 | B cells |
400 | 600 - 2700 | 11.00 | 15.00 - 39.00 | Low |
| 4.00 | HLA-DR CD4 T cells |
8.00 | 2.00 - 8.00 | Normal | ||
| 4.00 | Naive CD8+ T cells |
77.00 | 25.00 - 37.00 | High | ||
| 4.00 | naive CD4 T cells |
63.00 | 23.00 - 34.00 | High | ||
| 4.00 | CD4 T cells |
2000 | 1000 - 4600 | 52.00 | 31.00 - 54.00 | Normal |
| 4.00 | CD8 T cells |
1100 | 400 - 2100 | 28.00 | 12.00 - 28.00 | Normal |
| 4.00 | NK cells |
160 | 200 - 1200 | 4.00 | 3.00 - 17.00 | Low |
| 4.00 | Leukocytes |
5800 | 5500 - 18000 | Normal | ||
| 4.00 | Lymphocytes |
3800 | 1200 - 3400 | 65.00 | 52.00 - 72.00 | High |
| 4.00 | T cells |
3100 | 1600 - 6700 | 83.00 | 54.00 - 76.00 | Normal |
| 4.00 | HLA-DR CD8 T cells |
19.00 | 2.00 - 8.00 | High |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| 4.00 | IgA |
10 | 11 - 153 mg/dL | Low |
| 4.00 | IgG |
399 | 360 - 1236 mg/dL | Normal |
| 4.00 | IgM |
10 | 48 - 245 mg/dL | Low |
| 4.00 | sIL-2R |
191 | 25 - 124 IU/ml | High |
| 4.00 | C3 |
136 | 85 - 180 mg/dL | Normal |
| 4.00 | C4 |
43 | 10 - 40 mg/dL | High |
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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