Information on subject 106145
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
TIDAND |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy | AR |
12.00 | 1.50 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| FOXN1 |
P350L |
EX7 | c.1049C>T | p.Pro350Leu | missense_variant | Likely Pathogenic | HET |
Yes, part of genotype |
| FOXN1 |
C82* |
EX3 | c.246C>A | p.Cys82Ter | stop_gained | Likely Pathogenic | HET |
Yes, part of genotype |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
No | chronic | |
| 9.00 | Reduced number of B cells |
Yes | ||
| Unk. | Generalized lymphadenopathy |
Yes | ||
| Unk. | Pneumonia |
No | ||
| 6.00 | B-cell lymphoma |
Yes | ||
| Unk. | Autoimmunity |
Yes | ||
| Infancy | Alopecia |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | ||
| 10.00 | Reduced T cell count |
Yes | ||
| Unk. | Failure to thrive |
No | ||
| Unk. | Erythroderma |
No | ||
| Unk. | Epicanthus |
No | ||
| Unk. | Thymus aplasia |
Yes | ||
| Unk. | Nail dystrophy |
No |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 2.50 | B cells |
1045 | 182 - 2091 | Normal | ||
| 2.50 | NK cells |
220 | 100 - 1000 | Normal | ||
| 2.50 | Lymphocytes |
2333 | 2667 - 6833 | Low | ||
| 2.50 | T cells |
1060 | 1050 - 4660 | Normal | ||
| 9.00 | T cells |
800 | 800 - 4230 | Normal | ||
| 9.00 | Lymphocytes |
1000 | 1000 - 5833 | Normal | ||
| 9.00 | B cells |
150 | 180 - 1591 | Low | ||
| 9.00 | NK cells |
137 | 90 - 900 | Normal | ||
| 10.00 | T cells |
300 | 800 - 4230 | Low | ||
| 10.00 | B cells |
0 | 180 - 1591 | Low | ||
| 10.00 | Lymphocytes |
390 | 1000 - 5833 | Low | ||
| 10.00 | NK cells |
95 | 90 - 900 | Normal |
* 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. |
|---|
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover