Information on subject 102175
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
CHAI |
CTLA4 haploinsufficiency with autoimmune infiltration | AD |
21.00 | 10.00 | 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. | Decreased IgA levels |
Yes | ||
| Unk. | Decreased IgG levels |
Yes | ||
| Unk. | Decreased IgM levels |
Yes | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| 10.00 | Autoimmune hemolytic anemia |
Yes | ||
| 10.00 | Autoimmune thrombocytopenia |
Yes | ||
| Adolescence | Chronic CSF lymphocytosis |
Yes | ||
| 21.00 | Hodgkin lymphoma |
Yes | ||
| Adolescence | Generalized lymphadenopathy |
Yes | ||
| 21.00 | Pancytopenia |
Yes | severe | |
| Unk. | Eczema |
Yes | ||
| 21.00 | Colitis |
Yes | severe | |
| Unk. | Autoimmune neutropenia |
Yes | ||
| Unk. | Hepatopathy |
Yes | ||
| Unk. | Septicaemia |
Yes | ||
| 21.00 | Septicaemia |
Yes | fatal | |
| 21.00 | Fever |
Yes | ||
| Unk. | Nervous system abnormality |
Yes | ||
| Unk. | Herpes Simplex Virus Infection |
Yes | ||
| Unk. | Alopecia |
Yes | ||
| Unk. | Facial palsy |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | ||
| Unk. | Hepatomegaly |
Yes | ||
| 21.00 | Respiratory insufficiency |
Yes | progressive | |
| Unk. | Growth delay |
Yes | ||
| 21.00 | Disseminated nontuberculous mycobacterial infection |
Yes | ||
| 17.00 | Cholestatic liver disease |
Yes | ||
| 10.00 | Protracted diarrhea |
Yes | ||
| Adolescence | Bone marrow hypocellularity |
Yes | ||
| 21.00 | Persistent EBV viremia |
Yes | ||
| Unk. | Hematopoietic stem cell transplantation |
No | ||
| 21.00 | Triggered by EBV infection |
Yes | ||
| 17.00 | Giant cell hepatitis |
Yes | ||
| Adolescence | Bone marrow lymphocytic infiltration |
Yes | ||
| 17.00 | Bone marrow lymphocytic infiltration |
Yes | ||
| Unk. | Mycobacterial infection |
Yes | ||
| Unk. | Common variable immunodeficiency |
No | ||
| Unk. | Anti-CMV antibody positivity |
No |
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