Information on subject 106718
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
IMD22 |
Immunodeficiency 22 | AR |
24.00 | 7.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| LCK |
EX4-2A>G |
IN3 | c.188-2A>G | splice_acceptor_variant | Pathogenic | HOM |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Pneumonia |
Yes | ||
| Adolescence | Warts |
Yes | ||
| Adolescence | Herpes Simplex Virus Infection |
No | ||
| Adolescence | HIV Infection |
No | ||
| Unk. | Decreased proportion of CD4 Th cells |
Yes | ||
| Unk. | Squamous cell carcinoma of the skin |
Yes | ||
| Unk. | Epidermodysplasia verruciformis |
Yes | ||
| Childhood | Pityriasis rosea |
Yes |
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 |
|---|
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* 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