Information on subject 104838
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CHAI |
CTLA4 haploinsufficiency with autoimmune infiltration | AD |
26.00 | 8.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| CTLA4 |
M1T |
EX1 | c.2T>C | p.Met1? | start_lost | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 20.00 | Diarrhea |
Yes | recurrent | |
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 18.00 | Hypogammaglobulinemia |
Yes | ||
| Unk. | Decreased IgA levels |
Yes | ||
| Unk. | Decreased IgG levels |
Yes | ||
| 15.00 | Decreased IgG levels |
Yes | ||
| Unk. | Recurrent lower respiratory tract infections |
Yes | ||
| 10.00 | Recurrent lower respiratory tract infections |
Yes | recurrent | |
| Unk. | Recurrent upper respiratory tract infection |
Yes | ||
| 10.00 | Recurrent upper respiratory tract infection |
Yes | recurrent | |
| Unk. | Decreased IgM levels |
Yes | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| 8.00 | Autoimmune hemolytic anemia |
Yes | recurrent | |
| 11.00 | Autoimmune thrombocytopenia |
Yes | ||
| 23.00 | Enteropathy |
Yes | severe | |
| Unk. | Crohn ileitis |
Unclear | ||
| 12.00 | Bronchitis |
Yes | recurrent | |
| Unk. | Arthritis |
No | ||
| 23.00 | Abnormal weight loss |
Yes | severe | |
| Unk. | Pneumonia |
Yes | ||
| 10.00 | Sinusitis |
Yes | chronic | |
| Unk. | Colitis |
Yes | ||
| Unk. | Seizures |
No | ||
| Unk. | Lymphadenopathy |
No | ||
| Unk. | Osteoporosis |
Yes | ||
| Unk. | Hepatopathy |
No | ||
| Unk. | Septicaemia |
Yes | ||
| 14.00 | Bronchiectasis |
Yes | ||
| Unk. | Granulomatous-lymphocytic interstitial lung disease |
No | ||
| 8.00 | Coombs Test Positive |
Yes | ||
| Unk. | Autoimmune thyroiditis |
No | ||
| Unk. | Chronic kidney disease |
No | ||
| Unk. | Obesity |
Yes | ||
| Unk. | Growth delay |
No | ||
| Unk. | Crohn's disease |
Yes | ||
| Unk. | Ileitis |
Yes | ||
| Unk. | Brain lymphocytic infiltration |
No | ||
| Unk. | Recurrent respiratory infections |
Yes | ||
| Unk. | Anal ulcer |
Yes | ||
| Unk. | Malignant neoplasm |
No |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 15.00 | B cells |
11.00 | 4.00 - 28.00 | Normal | ||
| 21.00 | naive CD4 T cells |
46.90 | 16.00 - 99.99 | Normal* | ||
| 21.00 | CD4 T cells |
91.10 | 28.00 - 64.00 | High | ||
| 21.00 | CD8 T cells |
8.60 | 12.00 - 40.00 | Low | ||
| 21.00 | NK cells |
1.40 | 5.00 - 49.00 | Low | ||
| 21.00 | Lymphocytes |
30.00 | 27.00 - 34.00 | Normal* | ||
| 21.00 | alpha-beta T cells |
99.80 | 36.00 - 98.00 | High | ||
| 21.00 | gamma-delta T cells |
0.20 | 0.83 - 11.00 | Low | ||
| 21.00 | T cells |
93.50 | 55.00 - 83.00 | High* | ||
| 21.00 | CD4 memory T cells |
59.60 | 19.00 - 99.90 | Normal* |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| 18.00 | IgA |
4 | 70 - 400 mg/dL | Low* |
| 18.00 | IgG |
336 | 700 - 1600 mg/dL | Low* |
| 18.00 | IgM |
17 | 40 - 230 mg/dL | Low* |
| 18.00 | IgE |
15 | 10 - 100 IU/ml | 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