Information on ALPS2A
Basic details
Name: Autoimmune lymphoproliferative syndrome, type IIA | Acronym: ALPS2A
Alt. names:
Gene: CASP10 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1999
Last updated on: 2023-02-28 16:41:18 by
Description
Lymphoproliferation can be suppressed with medications such as corticosteroids, cyclosporine, tacrolimus, sirolimus, and mycophenolate mofetil; BMT/HSCT the only curative treatment for ALPS, has to date mostly been reported in patients with severe clinical findings; Surveillance for manifestations of lymphoproliferation and autoimmunity, and specialized imaging studies to detect malignant transformation may be beneficial. Variants may modify other related disorders. Refs. PMIDs: 10412980; 16537120; 16446975; 17999750; 20301287
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 | Coombs-positive hemolytic anemia |
20 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Autoimmune hemolytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | elevated ESR |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Increased proportion of double-negative T cells |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Lymphadenopathy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Rheumatoid factor positive |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Splenomegaly |
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.