Chinello Matteo, Mauro Margherita, Cantalupo Gaetano, Talenti Giacomo, Mariotto Sara, Balter Rita, De Bortoli Massimiliano, Vitale Virginia, Zaccaron Ada, Bonetti Elisa, Di Carlo Daniela, Barzaghi Federica, Cesaro Simone
Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Pediatric Department, Santa Maria Degli Angeli Hospital, Pordenone, Italy.
Front Pediatr. 2020 Oct 16;8:580963. doi: 10.3389/fped.2020.580963. eCollection 2020.
Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurological complications are also reported in patients affected by LRBA deficiency. We describe a 7-year old female with an acute cervical longitudinally extensive transverse myelitis (LETM) as a feature of LRBA deficiency. This is the first case of LETM associated with LRBA deficiency described in literature.
脂多糖反应性米色样锚定蛋白（LRBA）缺乏症是一种原发性免疫缺陷病（PID），可导致类似常见变异型免疫缺陷病（CVID）的疾病。该病的典型特征是自身免疫、慢性腹泻和低丙种球蛋白血症。LRBA缺乏症患者也有神经并发症的报道。我们描述了一名7岁女性，以急性颈段纵向广泛横贯性脊髓炎（LETM）为LRBA缺乏症的特征表现。这是文献中描述的首例与LRBA缺乏症相关的LETM病例。
