Abstract：
X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is caused by MAGT1 loss-of-function (LOF) mutations. The disease commonly presents with respiratory symptoms. Although the central nervous system can be affected, the spectrum of neuropsychiatric symptoms is not completely understood.
We describe a XMEN disease family presenting with atypical neuropsychiatric symptoms. The index, a previously healthy male, developed schizophrenia. Several years later, a novel hemizygous LOF MAGT1 c.407G > A, p.(Trp136X) LOF mutation and XMEN disease diagnosis was confirmed in his brother due to the burden of respiratory infections. Family screening also found the index to suffer from XMEN disease; the XMEN disease was concluded to contribute to the development of schizophrenia.
Our case description demonstrates that the spectrum of XMEN disease clinical presentations can be variable, and the condition may also present with severe neuropsychiatric consequences. While respiratory infections are common among schizophrenia patients, the possibility of inborn errors in immunity should be considered whenever an unexplained personal or family history infection susceptibility is encountered. We recommend evaluating complete family history to exclude unusual monogenic disorders associated or presenting with psychiatric manifestations.
We describe a XMEN disease family presenting with atypical neuropsychiatric symptoms. The index, a previously healthy male, developed schizophrenia. Several years later, a novel hemizygous LOF MAGT1 c.407G > A, p.(Trp136X) LOF mutation and XMEN disease diagnosis was confirmed in his brother due to the burden of respiratory infections. Family screening also found the index to suffer from XMEN disease; the XMEN disease was concluded to contribute to the development of schizophrenia.
Our case description demonstrates that the spectrum of XMEN disease clinical presentations can be variable, and the condition may also present with severe neuropsychiatric consequences. While respiratory infections are common among schizophrenia patients, the possibility of inborn errors in immunity should be considered whenever an unexplained personal or family history infection susceptibility is encountered. We recommend evaluating complete family history to exclude unusual monogenic disorders associated or presenting with psychiatric manifestations.
摘要：
背景：对EBV感染和N-连锁糖基化缺陷（XMEN）疾病的易感性增加的X-连锁MAGT1缺乏症是由MAGT1功能丧失（LOF）突变引起的。该疾病通常表现为呼吸道症状。虽然中枢神经系统会受到影响，神经精神症状的范围尚未完全了解。
方法：我们描述了一个表现为非典型神经精神症状的XMEN疾病家族。指数,以前健康的男性,发达的精神分裂症。几年后,一个新颖的半合子LOFMAGT1c.407G>A，p。（Trp136X）由于呼吸道感染的负担，他的兄弟证实了LOF突变和XMEN疾病诊断。家庭筛查还发现患有XMEN疾病的指标；XMEN疾病被认为有助于精神分裂症的发展。
结论：我们的病例描述表明，XMEN疾病的临床表现谱可以是可变的，这种情况也可能带来严重的神经精神后果。虽然呼吸道感染在精神分裂症患者中很常见，每当遇到无法解释的个人或家族史感染易感性时，应考虑免疫先天错误的可能性。我们建议评估完整的家族史，以排除与精神病表现相关或表现为异常的单基因疾病。
方法：我们描述了一个表现为非典型神经精神症状的XMEN疾病家族。指数,以前健康的男性,发达的精神分裂症。几年后,一个新颖的半合子LOFMAGT1c.407G>A，p。（Trp136X）由于呼吸道感染的负担，他的兄弟证实了LOF突变和XMEN疾病诊断。家庭筛查还发现患有XMEN疾病的指标；XMEN疾病被认为有助于精神分裂症的发展。
结论：我们的病例描述表明，XMEN疾病的临床表现谱可以是可变的，这种情况也可能带来严重的神经精神后果。虽然呼吸道感染在精神分裂症患者中很常见，每当遇到无法解释的个人或家族史感染易感性时，应考虑免疫先天错误的可能性。我们建议评估完整的家族史，以排除与精神病表现相关或表现为异常的单基因疾病。
