Information on LPFS1
Basic details
Name: Lymphoproliferative syndrome 1 | Acronym: LPFS1
Alt. names:
Gene: ITK | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
Due to the risk of malignancy, surveillance may allow prompt treatment; Medical treatment (eg, chemotherapy, virostatic agents, corticosteroids, rituximab) may induce remission, but treatment with HSCT may be required; Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Individuals may also have related predisposition to infectious complications. Refs. PMIDs: 19425169; 21109689; 22289921; 22487848
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 | Persistent EBV viremia |
5 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hodgkin lymphoma |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 3 | Juvenile onset |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Lymphadenopathy |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent fevers |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Childhood onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Recurrent infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Decreased IgG levels |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 9 | Hypogammaglobulinemia |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | Decreased proportion of CD4 Th cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Elevated C-reactive protein |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Hepatomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Hyperferritinemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Leukopenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | pericardial effusion |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Pleural effusion |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Splenomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Autoimmune hemolytic anemia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 19 | Autoimmune thrombocytopenia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 20 | B-cell lymphoma |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 21 | Lymphoproliferative disorder |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 22 | Pancytopenia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 23 | Stomatitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 24 | Hemophagocytosis |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
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.