Information on XLP2
Basic details
Name: Lymphoproliferative syndrome, X-linked, 2 | Acronym: XLP2
Alt. names:
Gene: XIAP | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2006
Last updated on: 2023-02-28 16:41:18 by
Description
Surveillance for EBV infections is indicated; Prompt recognition and treatment of hemophagocytic lymphohistiocytosis (with immunosuppressive agents or rituximab in the case of EBV infection); Treatment for individuals with hypogammaglobulinemia (with IVIG) may be beneficial; Awareness of the increased risk of lymphoma may allow prompt recognition and treatment; HSCT has been described, and is indicated in many individuals . Digenic disease (with CD40LG) have been reported. Refs. PMIDs: 17080092; 20301580; 21119115; 21543760; 21971331
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 | Fever |
9 (90.0%) | 0 (0.0%) | 1 (10.0%) |
| 2 | Splenomegaly |
9 (90.0%) | 0 (0.0%) | 1 (10.0%) |
| 3 | Hepatitis |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 4 | Hypertriglyceridemia |
7 (87.5%) | 0 (0.0%) | 1 (12.5%) |
| 5 | Hypofibrinogenemia |
7 (87.5%) | 0 (0.0%) | 1 (12.5%) |
| 6 | Hyperferritinemia |
7 (87.5%) | 0 (0.0%) | 1 (12.5%) |
| 7 | Hemophagocytosis |
4 (44.4%) | 0 (0.0%) | 5 (55.6%) |
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.