Information on subject 104268
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
IMAD1 |
Infantile-Onset Multisystem Autoimmune Disease 1 | AD |
38.00 | 0.50 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| STAT3 |
G421R |
EX14 | c.1261G>A | p.Gly421Arg | missense_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 0.50 | Diarrhea |
Yes | chronic | |
| Unk. | Decreased IgG levels |
Yes | ||
| Unk. | Decreased IgM levels |
Yes | ||
| 31.00 | Splenomegaly |
Yes | mild | |
| Unk. | Iron deficiency anemia |
Yes | severe | |
| 38.00 | Gastritis |
Yes | moderate | |
| Unk. | Sinusitis |
Yes | chronic | |
| Unk. | Malabsorption |
Yes | ||
| Unk. | Osteoporosis |
Yes | ||
| Unk. | Psoriasiform dermatitis |
Yes | ||
| Unk. | Antinuclear antibodies |
No | ||
| Unk. | APCA antibodies |
No | ||
| Unk. | Bronchiectasis |
Yes | ||
| 24.00 | Nasal polyps |
Yes | ||
| Unk. | AMA antibodies |
No | ||
| Unk. | ASMA positivity |
No | ||
| Unk. | Celiac disease |
Yes | ||
| Unk. | Failure to thrive |
Yes | ||
| 18.00 | Alopecia areata |
Yes | ||
| Unk. | Renal colic |
Yes | ||
| Unk. | Increased IgA levels |
Yes | ||
| Unk. | obstructive lung disease |
Yes | severe | |
| Unk. | Sinopulmonary infections |
Yes | recurrent | |
| Unk. | Squamous cell carcinoma |
Yes | ||
| 24.00 | Squamous cell carcinoma |
Yes | ||
| 17.00 | Decreased body weight |
Yes | ||
| 31.00 | Lymphoproliferative disorder |
No | ||
| Unk. | Urethral stenosis |
Yes | ||
| Unk. | Decreased proportion of regulatory T cells |
Yes | ||
| 38.00 | Decreased proportion of regulatory T cells |
Yes | ||
| Unk. | perinuclear antineutrophil antibodies |
No | ||
| Unk. | cytoplasmic antineutrophil antibodies |
No | ||
| Unk. | Autoimmune enteropathy |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 38.00 | T-reg cells |
1.60 | 6.61 - 6.61 | Low |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| 38.00 | IgA |
548 | 90 - 450 mg/dL | High |
| 38.00 | IgG |
555 | 700 - 1600 mg/dL | Low |
| 38.00 | IgM |
32 | 65 - 280 mg/dL | Low |
[ℹ] shows name on hover
* 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