Information on subject 101040
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CHAI |
CTLA4 haploinsufficiency with autoimmune infiltration | AD |
19.62 | 9.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| TNFRSF13C |
G64V |
EX2 | c.191G>T | p.Gly64Val | missense_variant | Pathogenic | HET |
Unassigned |
| CTLA4 |
I116T |
EX2 | c.347T>C | p.Ile116Thr | missense_variant | Pathogenic | HET |
Yes, alone |
| CTLA4 |
-318C>T |
5'UTR | c.-318C>T | upstream_gene_variant | Risk allele | WT |
No |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Unclear | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| 19.00 | Autoimmune hemolytic anemia |
Yes | severe | |
| 9.00 | Autoimmune thrombocytopenia |
Yes | chronic | |
| Unk. | Autoimmune cytopenia |
Yes | severe | |
| 20.70 | Enteropathy |
Yes | mild | |
| 18.00 | Urinary incontinence |
Yes | ||
| Unk. | Encephalitis |
Yes | ||
| 20.00 | Cytomegalovirus Infection Reactivation |
Yes | ||
| Unk. | Colitis |
Yes | ||
| 11.00 | Seizures |
Yes | ||
| 9.00 | Thrombocytopenia |
Yes | ||
| Unk. | Autoimmune neutropenia |
Yes | ||
| 15.00 | Autoimmune neutropenia |
Yes | ||
| 20.00 | Septicaemia |
Yes | ||
| Unk. | Nervous system abnormality |
Yes | ||
| Unk. | Coombs Test Positive |
Yes | ||
| 18.00 | Cerebral vasculitis |
Yes | ||
| Unk. | Autoimmune thyroiditis |
Yes | ||
| 20.00 | (unusual) Epstein-Barr virus infection |
Yes | ||
| 18.00 | Myelitis |
Yes | ||
| Unk. | Headaches |
Yes | ||
| 18.00 | Paraplegia |
Yes | ||
| 11.00 | Hemiparesis |
Yes | ||
| 20.00 | Severe Adenovirus infection |
Yes | ||
| Unk. | Brain lymphocytic infiltration |
Yes | ||
| 18.00 | Neurogenic bladder |
Yes | ||
| 18.00 | Diabetes insipidus |
Yes | ||
| 9.00 | Petechiae |
Yes | ||
| 11.00 | Cerebral hemorrhage |
Yes | ||
| Unk. | Vomiting |
Yes | ||
| 18.00 | Paraparesis |
Yes | ||
| Unk. | Increased CSF protein |
Yes | ||
| Unk. | CSF pleocytosis |
Yes | ||
| 20.00 | Hematopoietic stem cell transplantation |
Yes | ||
| 18.00 | Brain imaging abnormality |
Yes | ||
| Unk. | Increased CSF albumin concentration |
Yes | ||
| Unk. | Hypophysitis |
Yes | ||
| 18.00 | Hypophysitis |
Yes | ||
| 13.00 | Common variable immunodeficiency |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| 9.00 | Platelets |
2000 | 206400 - 434300 | Low | ||
| 11.00 | Platelets |
10000 | 206400 - 434300 | Low* |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| 18.00 | Hb |
21 | 116 - 153 g/L | Low |
[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