Information on WAS2
Basic details
Name: Wiskott-Aldrich syndrome 2 | Acronym: WAS2
Alt. names:
Gene: WIPF1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals have been described with frequent and severe infections (including a lethal infectious course in one individual), and thus, antiinfectious prophylaxis and early and aggressive treatment of infections and bleeding issues may be beneficial; Unrelated CBT has been reported as effective. Refs. PMIDs: 22231303
Management
Description of management option has not been reviewed yet.
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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 proportion of CD8 T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Defective T cell proliferation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Eczema |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Reduced natural killer cell activity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Thrombocytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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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.