Information on Caspase 8 defiency
Name: Caspase 8 defiency | Acronym:
Alt. names: Caspase 8 lymphadenopathy syndrome
Gene: CASP8 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2002
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 12353035; 15459299; 19930184; 21447005
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Asthma |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Absent ab-response to pneumococcal polysaccharide vaccine |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Decreased CD4:CD8 ratio |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Decreased T cell activation |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Defective B cell activation |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Eczema |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Failure to thrive |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Lymphadenopathy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Pneumonia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Herpes Simplex Virus Infection |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Sinopulmonary infections |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Reduced CD95-induced lymphocyte apoptosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | short stature |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Splenomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Chronic diarrhea |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 16 | Decreased IgA levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Decreased IgG levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 18 | Decreased IgM levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).