Information on subject 104953
Basic details
Sex: Female
Country: Australia
Population: Dutch
Consanguinity: No
Clin. status: Affected
Age of death: 76.0
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID12 |
NFKB1 insufficiency | AD |
80.00 | 29.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| NFKB1 |
EX8+4A>G |
IN8 | c.730+4A>G | p.Asp191_Lys244delinsGlu | splice_donor_region_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
No | ||
| 59.00 | Decreased IgA levels |
Yes | ||
| 59.00 | Decreased IgG levels |
Yes | ||
| Unk. | Recurrent upper respiratory tract infection |
Yes | ||
| (Middle-)Adulthood | (unusual) Respiratory tract infection |
Yes | recurrent | |
| 59.00 | Decreased IgM levels |
Yes | ||
| Unk. | Splenomegaly |
No | ||
| Unk. | Autoimmune cytopenia |
No | ||
| Unk. | Lung disease |
No | ||
| Unk. | Arthritis |
No | ||
| 74.00 | Pneumonia |
Yes | ||
| 59.00 | Sinusitis |
Yes | ||
| Unk. | Lymphadenopathy |
No | ||
| Unk. | Hepatopathy |
No | ||
| 74.00 | Septicaemia |
Yes | ||
| Unk. | Vasculitis |
No | ||
| Unk. | Cardiovascular system abnormality |
No | ||
| Unk. | Nervous system abnormality |
No | ||
| Unk. | Skin abnormality |
Yes | ||
| Unk. | Autoimmune thyroiditis |
No | ||
| Unk. | Hepatomegaly |
No | ||
| Unk. | Celiac disease |
Yes | ||
| 47.00 | Chronic obstructive pulmonary disease |
Yes | chronic | |
| 47.00 | Inflammation of the large intestine |
Yes | ||
| Unk. | Aphthous oral ulcer |
No | ||
| 59.00 | Helicobacter pylori infection |
Yes | ||
| Unk. | Frequent skin infections |
Yes | recurrent | |
| (Middle-)Adulthood | Squamous cell carcinoma |
Yes | ||
| 59.00 | Atrophic gastritis |
Yes | ||
| 76.00 | Pulmonary insufficiency |
Yes | fatal | |
| 29.00 | Pyoderma gangrenosum |
Yes | ||
| Unk. | Unusual gastrointestinal infection |
Yes | ||
| 74.00 | Severe influenza infection |
Yes | severe | |
| Unk. | Malignant neoplasm |
Yes | ||
| 59.00 | Common variable immunodeficiency |
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 |
|---|---|---|---|---|
| 45.00 | IgA |
24 | 90 - 300 mg/dL | Low |
| 45.00 | IgG |
255 | 570 - 1400 mg/dL | Low |
| 45.00 | IgM |
13 | 40 - 160 mg/dL | Low |
| 59.00 | IgA |
30 | 80 - 300 mg/dL | Low* |
| 59.00 | IgG |
276 | 600 - 1600 mg/dL | Low* |
| 59.00 | IgM |
16 | 40 - 250 mg/dL | Low* |
[ℹ] shows name on hover
* Measured during IVIG or other treatment.
Phenotypic & functional assays
| Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
|---|---|---|---|---|---|---|
| Unk. | p105 expression | 📊 decreased (truncated) | EBV-LCL |
WB | Basal | 316 |
| Unk. | p50 expression | 📊 decreased | EBV-LCL |
WB | Basal, PMA/Ionomycin | 316 |
| Unk. | NFKB1's cDNA size/sequence | aberrant | EBV-LCL |
cDNAsq | Basal | 316 |
| Unk. | p-p105 | decreased | PBMCs |
WB | PMA/Ionomycin | 316 |
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* Compared to WT controls
📊 shows raw values on hover