Information on subject 105357
Basic details
Sex: Male
Country:
Population:
Consanguinity: Unknown
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2018 [945] P1
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 |
S921* |
EX22 | c.2762C>G | p.Ser921Ter | stop_gained | Likely Pathogenic | HOM |
Yes, part of genotype |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 9.00 | Diarrhea |
Yes | ||
| 5.00 | Autoimmune hemolytic anemia |
Yes | ||
| 4.00 | Pancytopenia |
Yes | ||
| 4.00 | Pneumonia |
Yes | ||
| 9.00 | Rectal Prolapse |
Yes | ||
| 9.00 | Dermatitis |
Yes | ||
| Unk. | Sinusitis |
Yes | ||
| 9.00 | Colitis |
Yes | ||
| 4.00 | Lymphadenopathy |
Yes | ||
| 9.00 | Malabsorption |
Yes | ||
| 8.00 | Osteoporosis |
Yes | ||
| 8.00 | Hyperparathyroidism |
Yes | ||
| 4.00 | Infectious mononucleosis |
Yes | ||
| Unk. | Keratitis |
Yes | ||
| 4.00 | Hepatosplenomegaly |
Yes | ||
| 4.00 | Follicular lymphoid hyperplasia |
Yes | ||
| 8.00 | Increased circulating cortisol level |
Yes | ||
| 5.00 | Spontaneous hemolytic crises |
Yes | ||
| 1.00 | Recurrent upper and lower respiratory tract infections |
Yes | mild |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 5.00 | B cells |
85 | 170 - 1400 | 11.50 | 9.00 - 25.00 | Low |
| 5.00 | T cells |
577 | 940 - 4600 | 77.80 | 58.00 - 80.00 | Low |
| 5.00 | CD8 T cells |
297 | 330 - 1400 | 40.10 | 15.00 - 40.00 | Low |
| 5.00 | CD4 T cells |
260 | 430 - 2500 | 35.10 | 25.00 - 55.00 | Low |
| 10.00 | B cells |
4 | 170 - 1400 | 0.27 | 9.00 - 25.00 | Low* |
| 10.00 | T cells |
12164 | 940 - 4600 | 93.70 | 58.00 - 80.00 | High* |
| 10.00 | CD8 T cells |
548 | 330 - 1400 | 40.60 | 15.00 - 39.99 | Normal* |
| 10.00 | CD4 T cells |
679 | 430 - 2500 | 50.30 | 25.00 - 55.00 | Normal* |
* 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