Information on subject 101462
Basic details
Sex: Male
Country: Germany
Population:
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F154:P154
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
IMAD1 |
Infantile-Onset Multisystem Autoimmune Disease 1 | AD |
32.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| TRAF3IP2 |
D19N |
EX3 | c.55G>A | p.Asp19Asn | missense_variant | Risk allele | HET |
Uncertain |
| IKBKG |
E57K |
EX2 | c.169G>A | p.Glu57Lys | missense_variant | Likely Benign | HEM |
Unlikely |
| STAT1 |
EX3+3A>G |
IN3 | c.128+3A>G | splice_region_variant | Uncertain significance | HET |
Uncertain | |
| STAT3 |
E286A |
EX9 | c.857A>C | p.Glu286Ala | missense_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 23.00 | Decreased IgA levels |
Yes | mild | |
| 23.00 | Decreased IgG levels |
Yes | ||
| 23.00 | Decreased IgM levels |
No | ||
| 11.00 | Splenomegaly |
Yes | ||
| 32.00 | Pneumonia |
Yes | ||
| Unk. | Reduced IgG2 levels |
Yes | ||
| Unk. | Lymphadenopathy |
Yes | ||
| Unk. | Diabetes mellitus |
Yes | ||
| Unk. | Hematological neoplasm |
Yes | ||
| 29.00 | Interstitial lung disease |
Yes | ||
| 29.00 | Granulomatous-lymphocytic interstitial lung disease |
Yes | ||
| 11.00 | Hepatomegaly |
Yes | ||
| Unk. | Herpes labialis, recurrent |
Yes | ||
| Unk. | (unusual) Bacterial infection |
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 |
|---|
[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