Information on subject 106939
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID12 |
NFKB1 insufficiency | AD |
49.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| NFKB1 |
5'UTR_EX1-DEL |
EX1 | c.-26131_-23450del | p.? | feature_truncation | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| (Middle-)Adulthood | Diarrhea |
Yes | chronic | |
| (Middle-)Adulthood | Hypogammaglobulinemia |
Yes | ||
| Unk. | Decreased IgM levels |
Yes | ||
| Unk. | Reduced number of B cells |
Yes | ||
| 43.00 | Autoimmune thrombocytopenia |
Yes | ||
| Unk. | Eczema |
Yes | recurrent | |
| Unk. | Reduced NK cell number |
Yes | ||
| 49.00 | B-cell lymphoma |
Yes | ||
| Unk. | Reduced proportion of CD8 T cells |
Yes | ||
| 43.00 | Portal hypertension |
Yes | ||
| 25.00 | Human papilloma virus infection |
Yes | ||
| 49.00 | Vertigo |
Yes | acute | |
| 49.00 | (unusual) Epstein-Barr virus infection |
Yes | ||
| Unk. | erythema nodosum |
Yes | recurrent | |
| 43.00 | Nodular regenerative hyperplasia of liver |
Yes | ||
| (Middle-)Adulthood | Lymphocytic colitis |
Yes | ||
| Childhood | Rhinitis |
Yes | recurrent | |
| 43.00 | Hepatosplenomegaly |
Yes | ||
| Unk. | Decreased proportion of regulatory T cells |
Yes | ||
| Childhood | Recurrent pharyngitis |
Yes | recurrent | |
| Childhood | Recurrent ear infections |
Yes | recurrent | |
| 52.00 | Decubitus |
Yes | fatal |
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. |
|---|---|---|---|---|---|---|
| Unk. | IFIT1 mRNA expression | normal | T cells |
RT-qPCR | PHA | 1152 |
| Unk. | ISG15 mRNA expression | normal | T cells |
RT-qPCR | PHA | 1152 |
| Unk. | RSAD2 mRNA expression | decreased, mildly | T cells |
RT-qPCR | PHA | 1152 |
| Unk. | IFI27 mRNA expression | normal | T cells |
RT-qPCR | PHA | 1152 |
| Unk. | IFI44L mRNA expression | decreased, mildly | T cells |
RT-qPCR | PHA | 1152 |
| Unk. | p105 expression | 📊 decreased, mildly | T cells |
WB | PHA | 1152 |
| Unk. | p50 expression | 📊 decreased | T cells |
WB | PHA | 1152 |
| Unk. | NFKB1 mRNA expression | 📊 decreased, severely | T cells |
RT-qPCR | PHA | 1152 |
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover