Information on subject 105221
Basic details
Sex: Male
Country: Finland
Population: Finnish
Consanguinity: No
Clin. status: MildlyAffected
Age of death:
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID12 |
NFKB1 insufficiency | AD |
10.00 | 0.01 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| NFKB1 |
H67R |
EX5 | c.200A>G | p.His67Arg | missense_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
No | ||
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 10.00 | Decreased IgA levels |
No | ||
| 10.00 | Decreased IgG levels |
Yes | ||
| Unk. | Recurrent upper respiratory tract infection |
No | ||
| 10.00 | Decreased IgM levels |
No | ||
| Unk. | Splenomegaly |
No | ||
| Unk. | Autoimmune cytopenia |
No | ||
| Unk. | Lung disease |
No | ||
| 1.00 | Allergy |
Yes | mild | |
| 10.00 | Reduced ab-response to pneumococcal polysaccharide vaccine |
Yes | ||
| Unk. | Arthritis |
No | ||
| Unk. | Pneumonia |
No | ||
| 1.00 | Eczema |
Yes | acute | |
| 10.00 | Decreased proportion of switched memory B cells |
Yes | ||
| Unk. | Abscess |
No | ||
| 10.00 | Reduced ab-response to tetanus vaccine |
Yes | ||
| Unk. | Lymphadenopathy |
No | ||
| Unk. | Hepatopathy |
No | ||
| Unk. | Septicaemia |
Yes | ||
| Unk. | Vasculitis |
No | ||
| Unk. | Cardiovascular system abnormality |
No | ||
| Unk. | Bronchiectasis |
No | ||
| Unk. | Nervous system abnormality |
No | ||
| Unk. | Autoimmune thyroiditis |
No | ||
| Unk. | Hepatomegaly |
No | ||
| Unk. | Celiac disease |
No | ||
| Unk. | Inflammation of the large intestine |
No | ||
| Unk. | Aphthous oral ulcer |
No | ||
| Unk. | Frequent skin infections |
No | ||
| Unk. | Atrophic gastritis |
No | ||
| 10.00 | Decreased circulating level of specific antibody |
Yes | ||
| Unk. | Unusual gastrointestinal infection |
No | ||
| 0.01 | Neonatal sepsis |
Yes | acute | |
| Unk. | Malignant neoplasm |
No |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 10.00 | class switched memory B cells |
1.70 | 6.50 - 29.20 | Low |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| 10.00 | IgA |
94 | 70 - 230 mg/dL | Normal |
| 10.00 | IgG |
420 | 700 - 1400 mg/dL | Low |
| 10.00 | IgM |
77 | 40 - 160 mg/dL | Normal |
[ℹ] shows name on hover
* Measured during IVIG or other treatment.
Phenotypic & functional assays
| Age | Parameter[ℹ] | Result* | Cells | Methods[ℹ] | Stimuli | Ref. |
|---|
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* Compared to WT controls
📊 shows raw values on hover