■II型裸型淋巴细胞综合征(BLSII)是由CIITA基因突变引起的严重联合免疫缺陷的一种罕见形式,它调节主要组织相容性复合体II类(MHCII)的表达。
■我们报告了一个沙特男孩的病例,该男孩在CIITA基因中出现了新的突变,他患有急性和晚期脑膜脑脊髓炎,导致严重的神经发育退化。
■我们回顾了从病历中获得的患者的临床和实验室数据,并对BLSII进行了文献检索。
■患者表现为急性脑膜脑脊髓炎,经MRI检查结果证实,随后发现在CIITA基因p中携带纯合致病变异体。(Leu473Hisfs*15)。患者无MCHII表达,证实常染色体隐性BLSII的遗传诊断。令人惊讶的是,患者既往临床病史无明显感染或自身免疫。
■我们报告了一例新的ITA基因突变,表现为非典型的晚期和孤立的严重感染。孤立的严重脑膜脑脊髓炎可能是原发性免疫缺陷的表现。
UNASSIGNED: Bare lymphocyte syndrome type II (BLS II) is a rare form of severe combined immunodeficiency caused by mutations in the CIITA gene, which regulates major histocompatibility complex class II (MHC II) expression.
UNASSIGNED: We report the
case of a Saudi boy with a novel mutation in the CIITA gene who presented with acute and late meningoencephalomyelitis, resulting in severe neurodevelopmental regression.
UNASSIGNED: We reviewed the patient\'s clinical and laboratory data obtained from medical records and performed a literature search on BLS II.
UNASSIGNED: The patient presented with acute meningoencephalomyelitis confirmed by MRI findings and was later found to carry a homozygous pathogenic variant in the CIITA gene p.(Leu473Hisfs*15). The patient had no MCH II expression, confirming the genetic diagnosis of autosomal recessive BLS II. Surprisingly, the patient\'s prior clinical history was unremarkable for significant infections or autoimmunity.
UNASSIGNED: We report a
case with a novel CIITA gene mutation presenting atypically with a late and isolated severe infection. Isolated severe meningoencephalomyelitis may be a manifestation of primary immunodeficiency.