Information on subject 106047
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CHAI |
CTLA4 haploinsufficiency with autoimmune infiltration | AD |
14.00 | 1.00 | Definitive |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| CTLA4 |
P136L |
EX2 | c.407C>T | p.Pro136Leu | missense_variant | Pathogenic | HET |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| Unk. | Decreased IgA levels |
Yes | ||
| Unk. | Decreased IgG levels |
Yes | ||
| Unk. | Recurrent lower respiratory tract infections |
Yes | ||
| Unk. | Recurrent upper respiratory tract infection |
Yes | ||
| Unk. | Decreased IgM levels |
Yes | ||
| Unk. | Reduced number of B cells |
Yes | severe | |
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| Unk. | Autoimmune hemolytic anemia |
Yes | ||
| 14.00 | Autoimmune cytopenia |
Yes | severe | |
| Unk. | Lung disease |
Yes | ||
| Unk. | Pneumonia |
Yes | ||
| 14.00 | Gastrointestinal bleeding |
Yes | severe | |
| Unk. | Lymphadenopathy |
Yes | ||
| Unk. | Autoimmune neutropenia |
Yes | ||
| 14.00 | Mucocutaneous candidiasis |
Yes | severe | |
| Unk. | Hepatopathy |
Yes | ||
| Unk. | Intellectual disability |
Yes | ||
| Unk. | Bronchiectasis |
Yes | ||
| Unk. | Nervous system abnormality |
Yes | ||
| Unk. | Respiratory system abnormality |
Yes | ||
| Unk. | Granulomatous-lymphocytic interstitial lung disease |
Yes | ||
| Unk. | Coombs Test Positive |
Yes | ||
| Unk. | Herpes Simplex Virus Infection |
Yes | ||
| Unk. | Renal angiomyolipoma |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | ||
| 14.00 | Hyperbilirubinemia |
Yes | severe | |
| Unk. | Hepatomegaly |
Yes | ||
| Unk. | Kidney abnormality |
Yes | ||
| Unk. | Varicella zoster virus infection |
Yes | ||
| Unk. | (unusual) Cytomegalovirus infection |
Yes | ||
| 14.00 | (unusual) Cytomegalovirus infection |
Yes | severe | |
| Unk. | Hemiparesis |
Yes | ||
| Unk. | Grand mal seizures |
Yes | ||
| Unk. | (unusual) Bacterial infection |
Yes | ||
| Unk. | Immunodeficiency |
Yes | ||
| Unk. | Recurrent E. coli infections |
Yes | ||
| Unk. | Angiofibromas |
Yes | ||
| 14.00 | Hematopoietic stem cell transplantation |
Yes | ||
| Unk. | Graft Versus Host Disease |
Yes | fatal | |
| Unk. | Antineutrophil antibodies |
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