Information on subject 105180
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CHAI |
CTLA4 haploinsufficiency with autoimmune infiltration | AD |
28.00 | 2.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| CTLA4 |
P137R |
EX2 | c.410C>G | p.Pro137Arg | missense_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 18.00 | Decreased IgA levels |
Yes | ||
| Unk. | Decreased IgG levels |
Yes | ||
| Unk. | Recurrent lower respiratory tract infections |
Yes | ||
| 18.00 | Decreased IgM levels |
No | ||
| 18.00 | Reduced number of B cells |
Yes | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| 2.00 | Autoimmune cytopenia |
Yes | ||
| 2.00 | Enteropathy |
Yes | severe | |
| Unk. | Reduced ab-response to pneumococcal polysaccharide vaccine |
Yes | ||
| Unk. | Eczema |
Yes | ||
| Unk. | Reduced ab-response to tetanus vaccine |
Yes | ||
| 18.00 | Reduced NK cell number |
No | ||
| Unk. | Lymphadenopathy |
Yes | ||
| Unk. | Mucocutaneous candidiasis |
Yes | ||
| Unk. | Vitiligo |
Yes | ||
| Unk. | Type I diabetes mellitus |
Yes | ||
| 2.00 | Type I diabetes mellitus |
Yes | ||
| 2.00 | Exocrine pancreatic insufficiency |
Yes | ||
| Unk. | Antiphospholipid antibody positive |
Yes | ||
| 18.00 | Increased proportion of CD4 T cells |
Yes | ||
| 2.00 | Bronchiectasis |
Yes | ||
| Unk. | Warts |
Yes | ||
| Unk. | Granulomatous-lymphocytic interstitial lung disease |
Yes | ||
| Unk. | Coombs Test Positive |
Yes | ||
| Unk. | Herpes Simplex Virus Infection |
Yes | ||
| Unk. | Alopecia |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | ||
| 18.00 | Reduced T cell count |
No | ||
| Unk. | Growth delay |
Yes | ||
| Unk. | Deep venous thrombosis |
Yes | ||
| 2.00 | Deep venous thrombosis |
Yes | recurrent | |
| 18.00 | Increased T cell count |
Yes | ||
| 22.50 | Diabetic ketoacidosis |
Yes | fatal | |
| Unk. | (unusual) Bacterial infection |
Yes | ||
| Unk. | Recurrent S. aureus infections |
Yes | ||
| Unk. | Adverse drug response |
Yes | severe | |
| Unk. | Trachyonychia |
Yes | ||
| 20.00 | Hematopoietic stem cell transplantation |
Yes | ||
| 20.00 | Graft Versus Host Disease |
Yes | moderate | acute |
| 2.00 | Dependency on parenteral nutrition |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 18.00 | B cells |
1 | 90 - 660 | Low | ||
| 18.00 | T cells |
2842 | 690 - 2540 | High | ||
| 18.00 | NK cells |
114 | 90 - 590 | Normal | ||
| 18.00 | CD8 T cells |
492 | 190 - 1140 | Normal | ||
| 18.00 | CD4 T cells |
2350 | 410 - 1590 | High | ||
| 18.00 | naive CD4 T cells |
682 | 100 - 2300 | Normal* | ||
| 18.00 | Naive CD8+ T cells |
455 | 16 - 1000 | Normal | ||
| 18.00 | T-reg cells |
21.00 | 4.00 - 20.00 | High |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| 18.00 | IgA |
62 | 64 - 207 mg/dL | Low* |
| 18.00 | IgG |
884 | 580 - 1540 mg/dL | Normal* |
| 18.00 | IgM |
149 | 24 - 190 mg/dL | Normal* |
[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