Information on subject 106178
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CVID12 |
NFKB1 insufficiency | AD |
68.00 | 7.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| NFKB1 |
Q681* |
EX18 | c.2041C>T | p.Gln681Ter | stop_gained | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
Yes | ||
| 63.00 | Eczema |
Yes | ||
| Unk. | Septicaemia |
Yes | severe | |
| Unk. | Fever |
Yes | ||
| Unk. | Antinuclear antibodies |
No | ||
| Unk. | Rheumatoid factor positive |
No | ||
| Unk. | Autoimmunity |
Yes | ||
| Unk. | Leukocytosis |
Yes | recurrent | |
| 15.00 | Hip osteoarthritis |
Yes | ||
| 18.00 | Cutaneous abscess |
Yes | ||
| 22.00 | Cutaneous abscess |
Yes | ||
| 25.00 | Cutaneous abscess |
Yes | ||
| 63.00 | Necrotizing fasciitis |
Yes | ||
| Unk. | Hyperkeratosis |
Yes | ||
| 7.00 | Alopecia totalis |
Yes | ||
| 20.00 | Anal fistula |
Yes | ||
| 63.00 | Anal fistula |
Yes | ||
| 63.00 | Pyoderma gangrenosum |
Yes | ||
| 63.00 | Systemic autoinflammation |
Yes | ||
| Unk. | Antineutrophil antibodies |
No | ||
| Unk. | Parapharyngeal abscess |
Yes | ||
| 15.00 | Gluteal abscess |
Yes | ||
| 10.00 | Streptococcal tonsillitis |
Yes | recurrent |
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. | TNF-alpha production | increased | Monocyte-derived macrophages |
ELISA | LPS | 1151 |
| Unk. | IL-1b production | increased, mildly | Monocyte-derived macrophages |
ELISA | LPS+ATP | 1151 |
| Unk. | IL-1b production | increased | Monocyte-derived macrophages |
ELISA | LPS+MSU | 1151 |
| Unk. | p105 expression | decreased, severely | PBMCs |
WB | Basal, LPS | 1151 |
| Unk. | p50 expression | decreased, severely | PBMCs |
WB | Basal, LPS | 1151 |
| Unk. | NFKB1 mRNA expression | decreased | Monocyte-derived macrophages |
RT-qPCR | Basal, LPS | 1151 |
| Unk. | CXCL10 mRNA expression | normal | Monocyte-derived macrophages |
RT-qPCR | LPS | 1151 |
| Unk. | IFIT2 mRNA expression | normal | Monocyte-derived macrophages |
RT-qPCR | LPS | 1151 |
| Unk. | p65 nuclear translocation | normal | Monocyte-derived macrophages |
IF | LPS | 1151 |
| Unk. | IFNB1 mRNA expression | increased, mildly | Monocyte-derived macrophages |
RT-qPCR | LPS | 1151 |
| Unk. | p50 nuclear translocation | normal | Monocyte-derived macrophages |
IF | LPS | 1151 |
| Unk. | IL10 mRNA expression | increased, mildly | Monocyte-derived macrophages |
RT-qPCR | LPS | 1151 |
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover