Information on XMEN
Basic details
Name: Immunodeficiency, X-linked, with magnesium defect, EBV infection and neoplasia | Acronym: XMEN
Alt. names:
Gene: MAGT1 | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2008
Last updated on: 2023-02-28 16:41:18 by
Description
Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. For Mental retardation, X-linked 95, the evidence of mutations as being related to disease causation has been questioned due to subsequent population-based studies. Refs. PMIDs: 18455129; 21796205; 23871722; 25504528; 25956530; 31036665
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
105732 |
M | 215844 | U.S.A. | PMID:21796205 [Fam.A:IV.1(1)] |
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 | (unusual) Epstein-Barr virus infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | (unusual) Viral infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.