Information on SCID6
Basic details
Name: Immunodeficiency due to defect in CD3-Zeta | Acronym: SCID6
Alt. names: CD3Z deficiency | immunodeficiency 25
Gene: CD247 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2006
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may present with a variety of infectious manifestations, including oral, pulmonary, and skin infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; The use of G-CSF has been reported, as has BMT. Refs. PMIDs: 3262828; 16672702
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.
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).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Reduced IgG2 levels |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | ASMA positivity |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 3 | AMA antibodies |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 4 | Autoimmune hemolytic anemia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Absent specific antibody response to tetanus vaccine |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Eosinophilia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Erythroderma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Increased IgA levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Increased IgE levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Increased IgG level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Increased IgM levels |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Protracted diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Recurrent candida infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Herpes Simplex Virus Infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Recurrent pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Reduced T cell count |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.