Information on subject 101808
Basic details
Sex: Female
Country:
Population:
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F265:P265
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID2 |
Immunodeficiency, common variable, 2 | AD/AR |
44.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| TNFRSF13B |
I87N |
EX3 | c.260T>A | p.Ile87Asn | missense_variant | Risk allele | HET |
Yes, part of genotype |
| NOD2 |
R713H |
EX4 | c.2138G>A | p.Arg713His | missense_variant | Likely Benign | HET |
Unlikely |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 36.44 | Decreased IgA levels |
Yes | mild | |
| 36.44 | Decreased IgG levels |
Yes | moderate | |
| Unk. | (unusual) Respiratory tract infection |
Yes | recurrent | |
| 36.44 | Decreased IgM levels |
Yes | moderate | |
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Neutropenia |
Yes | ||
| Unk. | Non-Hodgkin lymphoma |
Yes | ||
| Unk. | Sinusitis |
Yes | recurrent | |
| Unk. | Reduced ab-response to tetanus vaccine |
No | ||
| Unk. | negative ab-response to diphtheria vaccine |
No | ||
| Unk. | Thrombocytopenia |
Yes | ||
| Unk. | Lymphadenopathy |
Yes | ||
| Unk. | Hematological neoplasm |
Yes | ||
| Unk. | Hepatomegaly |
Yes | ||
| 39.61 | Varicella zoster virus infection |
Yes | severe | |
| 34.00 | Follicular lymphoma |
Yes | ||
| Unk. | Absent ab-response to pneumococcal polysaccharide vaccine |
No |
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. |
|---|
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover