Information on subject 101077
Basic details
Sex: Female
Country: Germany
Population: German
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F043:P043
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 |
|---|---|---|---|---|---|---|---|---|
P2RX7 |
G150R |
EX5 | c.448G>A | p.Gly150Arg | missense_variant | Risk allele | HET |
Uncertain |
| CD40 |
P227A |
EX9 | c.679C>G | p.Pro227Ala | missense_variant | Risk allele | HET |
No |
| TPP2 |
EX17-7del |
IN16 | c.2021-10_2021-7del | splice_region_variant | Uncertain significance | lowAF |
Unassigned | |
| CFTR |
R668C |
EX14 | c.2002C>T | p.Arg668Cys | missense_variant | Likely Benign | HET |
Unassigned |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 12.49 | Hypogammaglobulinemia |
Yes | ||
| 12.18 | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| Unk. | Lung disease |
Yes | ||
| 29.19 | Enteropathy |
Yes | ||
| Unk. | Reduced proportion of naive CD4 T cells |
Yes | ||
| 12.18 | Pulmonary granulomatosis |
Yes | ||
| Unk. | Bronchitis |
Yes | recurrent | |
| Unk. | Pyelonephritis |
Yes | ||
| 26.35 | Salmonella infection |
Yes | ||
| 14.76 | Pneumonia |
Yes | ||
| 25.07 | Thrombocytopenia |
Yes | ||
| 22.27 | Lymphadenopathy |
Yes | ||
| 25.21 | Lymphopenia |
Yes | ||
| 14.34 | Septicaemia |
Yes | ||
| 14.86 | Rheumatoid factor positive |
No | ||
| 14.76 | Bronchiectasis |
Yes | ||
| Unk. | Warts |
Yes | ||
| 28.02 | Renal insufficiency |
Yes | ||
| 12.18 | Toxoplasmosis |
Yes | ||
| Unk. | (unusual) Urinary tract infection |
Yes | ||
| 23.85 | Hepatomegaly |
Yes | ||
| 22.02 | Hyperuricemia |
Yes | ||
| 29.18 | Uric acid nephrolithiasis |
Yes | ||
| 18.00 | Delayed puberty |
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