Information on WAS
Basic details
Name: Wiskott-Aldrich syndrome | Acronym: WAS
Alt. names: IMMUNODEFICIENCY 2 | IMD2 | WISKOTT-ALDRICH SYNDROME 1 | WAS1
Gene: WAS | MOI: X-linked recessive | Mechanism of action: Loss of Function
No. of cases in DB: 3 | First reported in: 1994
Last updated on: 2023-02-28 16:41:18 by
Description
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA, LYMPHOPENIA, and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Management
Prophylaxis and early and aggressive treatments for infections, and avoidance of circumstances that would result in severe bleeding, including certain medications, may be beneficial; HSCT, and genetically modified HSCT (gene therapy) have been described. Individuals can have immune dysfunction, such as in SCNX, which is due to constitutively activating mutations.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
3 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
101110 |
M | 212356 | 7 | Iran | PMID:34390440 [HIES51] | |||
| 102869 |
U | 214997 | PMID:35967303 [Pt1-WAS] | |||||
| 102870 |
U | 214998 | PMID:35967303 [Pt2-WAS] |
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 | Eosinophilia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 2 | Increased IgE levels |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 3 | Eczema |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 4 | Thrombocytopenia |
0 (0.0%) | 1 (33.3%) | 2 (66.7%) |
| 5 | Decreased mean platelet volume |
0 (0.0%) | 1 (33.3%) | 2 (66.7%) |
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 |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.