Information on subject 106068
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CHAI |
CTLA4 haploinsufficiency with autoimmune infiltration | AD |
40.00 | 8.00 | Possible |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| CTLA4 |
P136S |
EX2 | c.406C>T | p.Pro136Ser | missense_variant | Likely Pathogenic | HET |
Likely |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
Yes | ||
| Unk. | Hypogammaglobulinemia |
Yes | ||
| Unk. | Decreased IgG levels |
Yes | ||
| Unk. | Recurrent lower respiratory tract infections |
Yes | ||
| Unk. | Recurrent upper respiratory tract infection |
Yes | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| Unk. | Reduced ab-response to pneumococcal polysaccharide vaccine |
Yes | ||
| Early-Adulthood | Arthritis |
Yes | ||
| Unk. | Pneumonia |
Yes | ||
| 38.00 | Pneumonia |
Yes | severe | |
| Unk. | Reduced ab-response to tetanus vaccine |
Yes | ||
| Unk. | negative ab-response to diphtheria vaccine |
Yes | ||
| Unk. | Mucocutaneous candidiasis |
Yes | ||
| Unk. | Type I diabetes mellitus |
Yes | ||
| Early-Adulthood | Uveitis |
Yes | ||
| Unk. | Bronchiectasis |
Yes | ||
| Unk. | Warts |
Yes | ||
| Unk. | Granulomatous-lymphocytic interstitial lung disease |
Yes | ||
| 17.00 | Cryptogenic Organizing Pneumonia |
Yes | ||
| Unk. | Herpes Simplex Virus Infection |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | ||
| 17.00 | (unusual) Epstein-Barr virus infection |
Yes | ||
| Unk. | Kidney abnormality |
Yes | ||
| Unk. | Varicella zoster virus infection |
Yes | ||
| Unk. | Follicular bronchiolitis |
Yes | ||
| 17.00 | Follicular bronchiolitis |
Yes | ||
| 17.00 | Cough |
Yes | ||
| Unk. | Pneumatocele |
Yes | ||
| 17.00 | Dyspnea |
Yes | ||
| 17.00 | Pulmonary infiltrates |
Yes | ||
| Unk. | (unusual) Bacterial infection |
Yes | ||
| Unk. | Recurrent S. aureus infections |
Yes | ||
| Unk. | Decreased pulmonary function |
Yes | ||
| Early-Adulthood | Recurrent pneumonia |
Yes | ||
| Unk. | Anti-glutamic acid decarboxylase antibody positivity |
Yes | ||
| Unk. | Common variable immunodeficiency |
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