Information on OS2
Basic details
Name: Omenn syndrome 2 | Acronym: OS2
Alt. names: T+B- SCID
Gene: RAG1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 5 | First reported in: 1998
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis (though special consideration is necessary related to the use of live vaccines) and early and aggressive treatment of infections may be beneficial; HSCT has been reported. Refs. PMIDs: 9630231; 10226883; 11313270; 16276422; 18463379; 20956421; 20489056; 21131235; 21624848; 21184155; 21732012; 21625022; 21771083; 22424479
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
5 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
104846 |
F | 215580 | 1 | 0 | Egypt | Egyptian | PMID:30307608 [1] | |
| 104847 |
M | 215581 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [2] | |
| 104848 |
F | 215582 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [3] | |
| 104849 |
F | 215583 | 3 | 0 | Egypt | Egyptian | PMID:30307608 [4] | |
| 104850 |
M | 215584 | 0 | 0 | Egypt | Egyptian | PMID:30307608 [5] |
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 | Erythroderma |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Abnormal lymphoproliferation |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 3 | (unusual) Respiratory tract infection |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 4 | Hepatopathy |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 5 | Lung disease |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 6 | Enteropathy |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 7 | Hepatomegaly |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 8 | Diarrhea |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 9 | Pneumonia |
3 (60.0%) | 0 (0.0%) | 2 (40.0%) |
| 10 | Mucocutaneous candidiasis |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 11 | Splenomegaly |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 12 | Oral candidiasis |
2 (40.0%) | 0 (0.0%) | 3 (60.0%) |
| 13 | Lymphopenia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 14 | Septicaemia |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 15 | Graft Versus Host Disease |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 16 | Reduced number of B cells |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 17 | Increased IgM levels |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 18 | Suppurative Otitis Media |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 19 | Reduced T cell count |
1 (20.0%) | 0 (0.0%) | 4 (80.0%) |
| 20 | Decreased IgG levels |
0 (0.0%) | 1 (20.0%) | 4 (80.0%) |
| 21 | Reduced NK cell number |
0 (0.0%) | 1 (20.0%) | 4 (80.0%) |
| 22 | Eosinophilia |
0 (0.0%) | 1 (20.0%) | 4 (80.0%) |
| 23 | Decreased IgM levels |
0 (0.0%) | 1 (20.0%) | 4 (80.0%) |
| 24 | Hypogammaglobulinemia |
0 (0.0%) | 1 (20.0%) | 4 (80.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|---|
| Antibiotics | Negative/Bad (2) for Pneumonia; Septicaemia. Mild (2) for Pneumonia; Suppurative Otitis Media |
| Antifungal agents | Negative/Bad (1) for Oral candidiasis |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.