Information on SCID8
Basic details
Name: Immunodeficiency 52 | Acronym: SCID8
Alt. names: LAT deficiency
Gene: LAT | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; HSCT has been described. Refs. PMIDs: 27242165; 27522155
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 | Defective T cell proliferation |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 3 | Recurrent infections |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Reduced T cell count |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Decreased IgA levels |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Increased proportion of gamma-delta T cells |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Lymphadenopathy |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Neonatal onset |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 9 | Persistent CMV viremia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Recurrent pneumonia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Splenomegaly |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Autoimmune thrombocytopenia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 13 | Bronchiectasis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 14 | Chronic lung disease |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 15 | Coombs-positive hemolytic anemia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 16 | Hypogammaglobulinemia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 17 | Reduced proportion of CD4 T cells |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 18 | Failure to thrive |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 19 | Lymphopenia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 20 | Death in childhood |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 21 | Death in infancy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | Persistent EBV viremia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | Abnormal B cell count |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
| 24 | Abnormal NK cell count |
0 (0.0%) | 0 (0.0%) | 5 (99.9%) |
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.