Information on LPFS2
Basic details
Name: Lymphoproliferative syndrome 2 | Acronym: LPFS2
Alt. names: CD27 deficiency
Gene: CD27 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction. The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation. Only a few cases have been reported to date.
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 |
15 (51.7%) | 0 (0.0%) | 14 (48.3%) |
| 2 | Lymphadenopathy |
10 (52.6%) | 0 (0.0%) | 9 (47.4%) |
| 3 | Lymphoproliferative disorder |
9 (36.0%) | 0 (0.0%) | 16 (64.0%) |
| 4 | Hypogammaglobulinemia |
6 (31.6%) | 0 (0.0%) | 13 (68.4%) |
| 5 | Fever |
6 (31.6%) | 0 (0.0%) | 13 (68.4%) |
| 6 | Hemophagocytosis |
5 (20.0%) | 0 (0.0%) | 20 (80.0%) |
| 7 | Hepatosplenomegaly |
5 (29.4%) | 0 (0.0%) | 12 (70.6%) |
| 8 | Oral ulcer |
4 (23.5%) | 0 (0.0%) | 13 (76.5%) |
| 9 | Uveitis |
4 (23.5%) | 0 (0.0%) | 13 (76.5%) |
| 10 | Hodgkin lymphoma |
3 (17.7%) | 0 (0.0%) | 14 (82.4%) |
| 11 | Recurrent pneumonia |
3 (17.7%) | 0 (0.0%) | 14 (82.4%) |
| 12 | Aplastic anaemia |
2 (10.5%) | 0 (0.0%) | 17 (89.5%) |
| 13 | Hepatomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Lymphoma |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 15 | Splenomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | EBV encephalitis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 17 | EBV meningitis |
1 (5.9%) | 0 (0.0%) | 16 (94.1%) |
| 18 | Pancytopenia |
1 (5.9%) | 0 (0.0%) | 16 (94.1%) |
| 19 | Septicaemia |
1 (5.9%) | 0 (0.0%) | 16 (94.1%) |
| 20 | Varicella zoster virus infection |
1 (5.9%) | 0 (0.0%) | 16 (94.1%) |
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.