Information on XLP1
Basic details
Name: Lymphoproliferative syndrome, X-linked, 1 | Acronym: XLP1
Alt. names: lymphoproliferative syndrome | XLP-1
Gene: SH2D1A | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1998
Last updated on: 2023-05-17 17:25:50 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 . Refs. PMIDs: 4852784; 48119; 7188959; 6283885; 1847089; 8559596; 9771704; 11133747; 17620557; 20926771; 21971331
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 | Dysgammaglobulinemia |
46 (50.6%) | 0 (0.0%) | 45 (49.5%) |
| 2 | Hemophagocytosis |
39 (33.1%) | 0 (0.0%) | 79 (67.0%) |
| 3 | Lymphoma |
25 (24.0%) | 0 (0.0%) | 79 (76.0%) |
| 4 | (unusual) Epstein-Barr virus infection |
16 (14.6%) | 0 (0.0%) | 94 (85.5%) |
| 5 | Neutropenia |
12 (21.1%) | 0 (0.0%) | 45 (79.0%) |
| 6 | Hypogammaglobulinemia |
10 (76.9%) | 0 (0.0%) | 3 (23.1%) |
| 7 | Decreased IgG levels |
8 (61.5%) | 0 (0.0%) | 5 (38.5%) |
| 8 | Aplastic anaemia |
3 (3.3%) | 0 (0.0%) | 88 (96.7%) |
| 9 | Hepatomegaly |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 10 | Burkitt lymphoma |
2 (15.4%) | 0 (0.0%) | 11 (84.6%) |
| 11 | Recurrent respiratory infections |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 12 | Splenomegaly |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 13 | Vasculitis |
2 (2.2%) | 0 (0.0%) | 89 (97.8%) |
| 14 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Elevated C-reactive protein |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Fulminant hepatitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 17 | Hepatic failure |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 18 | Hypoalbuminemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Meningitis |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
| 20 | Pancytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Recurrent fevers |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | Reduced natural killer cell activity |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Abnormal B cell count |
0 (0.0%) | 0 (0.0%) | 7 (99.9%) |
| 24 | Abnormal T cell count |
0 (0.0%) | 0 (0.0%) | 13 (99.9%) |
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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.