Information on subject 101386
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID8 |
Immunodeficiency, common variable, 8 | AR |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| LRBA |
EX1_30DEL |
EX1-30 | c.-65457_5171+476del | p.? | transcript_ablation | Pathogenic | HOM |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
Yes | chronic | |
| 4.00 | Splenomegaly |
Yes | ||
| Unk. | Autoimmune hemolytic anemia |
Yes | ||
| 4.00 | Neutropenia |
Yes | ||
| Unk. | Intestinal lymphoid nodular hyperplasia |
Yes | ||
| 4.00 | Generalized lymphadenopathy |
Yes | ||
| 5.00 | Abscess |
Yes | ||
| Unk. | Villous atrophy |
Yes | ||
| 4.00 | Thrombocytopenia |
Yes | ||
| 9.00 | Septicaemia |
Yes | recurrent | |
| Unk. | Growth delay |
Yes | ||
| Unk. | erythema nodosum |
Yes | ||
| 9.00 | Recurrent streptococcus pneumoniae infections |
Yes | recurrent | |
| 9.00 | Recurrent Haemophilus influenzae infections |
Yes | 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 |
|---|
[ℹ] shows name on hover
* 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