[XMEN disease diagnosed following persistent Epstein-Barr virus viremia and recurrent lymphadenopathy].
1/5 보강
The patient was a 46-year-old man with a family history of malignant lymphoma.
APA
Ikunari R, Yoshihara K, et al. (2026). [XMEN disease diagnosed following persistent Epstein-Barr virus viremia and recurrent lymphadenopathy].. [Rinsho ketsueki] The Japanese journal of clinical hematology, 67(1), 44-49. https://doi.org/10.11406/rinketsu.67.44
MLA
Ikunari R, et al.. "[XMEN disease diagnosed following persistent Epstein-Barr virus viremia and recurrent lymphadenopathy].." [Rinsho ketsueki] The Japanese journal of clinical hematology, vol. 67, no. 1, 2026, pp. 44-49.
PMID
41621963 ↗
Abstract 한글 요약
The patient was a 46-year-old man with a family history of malignant lymphoma. He presented with bilateral submandibular and cervical lymphadenopathy, which resolved spontaneously. However, approximately one year later, he was admitted to our hospital for treatment of systemic lymph node swelling and bacterial pneumonia. Inguinal lymph node biopsy showed residual lymph follicles with T-zone expansion and numerous Epstein-Barr virus encoding region in situ hybridization (EBER-ISH) positive B-cells. Epstein-Barr virus (EBV) was also detected in the plasma, and EBV encephalitis was diagnosed. Following antibiotic treatment, the lymph node swelling regressed, and the patient was discharged. Based on the characteristic family history, susceptibility to infections, and EBV viremia, we suspected a primary immunodeficiency syndrome. XMEN disease caused by a pathogenic mutation in the magnesium transporter 1 (MAGT1) gene was diagnosed by genetic testing. To the best of our knowledge, no cases of XMEN disease from Japan have been reported in the literature. It is important to consider genetic testing when primary immunodeficiency is suspected.
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