Information on subject 101132
Basic details
Sex: Male
Country: Germany
Population: German
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F081:P081
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
NOD2 |
R703C |
EX4 | c.2107C>T | p.Arg703Cys | missense_variant | Risk allele | HET |
Unassigned |
| IL17RA |
T51M |
EX2 | c.152C>T | p.Thr51Met | missense_variant | Uncertain significance | HET |
Unassigned |
| PIK3CD |
T739P |
EX17 | c.2215A>C | p.Thr739Pro | missense_variant | Uncertain significance | lowAF |
Unassigned |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 2.17 | Decreased IgA levels |
Yes | ||
| Unk. | Autoimmune cytopenia |
Yes | ||
| Unk. | Leukopenia |
Yes | ||
| 2.00 | Bronchitis |
Yes | acute | |
| 5.42 | Pneumonia |
Yes | recurrent | |
| 6.00 | Reduced ab-response to tetanus vaccine |
No | ||
| 6.00 | negative ab-response to diphtheria vaccine |
No | ||
| 29.53 | Hypothyroidism |
Yes | ||
| 2.17 | Reduced IgG2 levels |
Yes | ||
| 2.17 | Reduced IgG4 levels |
Yes | ||
| 29.85 | Esophageal candidiasis |
Yes | ||
| 19.26 | (unusual) Epstein-Barr virus infection |
Yes | severe | |
| Unk. | Reduced T cell count |
Yes | ||
| 5.42 | Varicella zoster virus infection |
Yes | recurrent | |
| 27.10 | Macrocytic anemia |
Yes | ||
| 4.00 | Paraplegia |
Yes | ||
| 9.00 | Cicatrical pemphigoid |
Yes | ||
| 30.00 | Absent ab-response to pneumococcal polysaccharide vaccine |
Yes |
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