Information on subject 105314
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID12 |
NFKB1 insufficiency | AD |
71.00 | 48.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| NFKB1 |
V98D |
EX6 | c.293T>A | p.Val98Asp | missense_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
No | ||
| Unk. | Decreased IgA levels |
Yes | ||
| Unk. | Decreased IgG levels |
Yes | ||
| Unk. | Recurrent upper respiratory tract infection |
No | ||
| Unk. | (unusual) Respiratory tract infection |
Yes | ||
| Unk. | Decreased IgM levels |
Yes | ||
| Unk. | Reduced number of B cells |
Yes | ||
| Unk. | Splenomegaly |
No | ||
| Unk. | Autoimmune cytopenia |
No | ||
| Unk. | Lung disease |
Yes | ||
| Unk. | Arthritis |
No | ||
| Unk. | Pneumonia |
Yes | severe | recurrent |
| Unk. | Abscess |
No | ||
| Unk. | Lymphadenopathy |
No | ||
| Unk. | Hepatopathy |
No | ||
| 70.00 | Septicaemia |
Yes | ||
| Unk. | Vasculitis |
No | ||
| Unk. | Cardiovascular system abnormality |
No | ||
| (Middle-)Adulthood | Bronchiectasis |
Yes | ||
| Unk. | Nervous system abnormality |
No | ||
| Unk. | Hyperthyroidism |
Yes | ||
| Unk. | Autoimmune thyroiditis |
Yes | ||
| Unk. | Pulmonary fibrosis |
Yes | ||
| Unk. | Hepatomegaly |
No | ||
| Unk. | Reduced T cell count |
Yes | ||
| Unk. | Celiac disease |
No | ||
| Unk. | Pulmonary Hypertension |
Yes | ||
| 59.00 | Follicular lymphoma |
Yes | recurrent | |
| Unk. | Inflammation of the large intestine |
No | ||
| Unk. | Aphthous oral ulcer |
No | ||
| Unk. | Frequent skin infections |
Yes | ||
| Unk. | Atrophic gastritis |
No | ||
| Unk. | Decreased proportion of CD4 Th cells |
Yes | ||
| 73.00 | Progressive leukoencephalopathy |
Unclear | ||
| Unk. | Unusual gastrointestinal infection |
No | ||
| Unk. | Cellulitis |
Yes | ||
| 66.00 | Cellulitis |
Yes | recurrent | |
| Unk. | Malignant neoplasm |
Yes | ||
| 54.00 | Common variable immunodeficiency |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| B cells |
0 | 64 - 820 | 0.00 | 4.00 - 28.00 | Low | |
| T cells |
458 | 780 - 3000 | 74.00 | 50.00 - 91.00 | Low | |
| Lymphocytes |
619 | 1000 - 2800 | Low | |||
| CD8 T cells |
283 | 200 - 1200 | 45.70 | 12.00 - 40.00 | Normal | |
| CD4 T cells |
174 | 300 - 1400 | 28.10 | 28.00 - 64.00 | Low |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| IgA |
10 | 73 - 334 mg/dL | Low | |
| IgG |
200 | 670 - 1350 mg/dL | Low | |
| IgM |
10 | 38 - 241 mg/dL | Low |
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* Measured during IVIG or other treatment.
Phenotypic & functional assays
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* Compared to WT controls
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