Juvenile systemic lupus erythematosus (JSLE) is considered a polygenic disease, although identified causes of monogenic SLE and lupus-like syndrome are enlarging.1 2 The genetic basis of polyautoimmune syndromes is also being elucidated, now including lipopolysaccharide-responsive beige-like anchor (LRBA) deficiencies.3 We report a patient carrying a new deleterious LRBA mutation that associates with JSLE . The patient, a girl born from healthy consanguineous parents, presented recurrent respiratory infections since 1 year of age, and since 7 years of age, chronic non-bloody diarrhoea diagnosed as non-specific colitis, IgA deficiency (<1.0 mg/dL) and arthralgia. At 10 years of age, laboratory tests revealed normal C1q, C2, C3, C4, CH50 and lymphocyte counts, homogeneous antinuclear antibody (ANA; HEp-2 1/640) and negative anti-dsDNA. Six months later, she presented respiratory distress, acute diarrhoea, pericardial effusion, serum glucose of 724 mg/dL, positive anti-IAA (42 IU/mL), and type 1 diabetes (T1D) was diagnosed. When 11 years of age, she clearly fulfilled the American College of Rheumatology 1997 SLE classification criteria by presenting polyarthritis, pericarditis, autoimmune haemolytic anaemia, alopecia, persistent malar rash, homogeneous ANA (1/1280), positive anti-dsDNA (119 IU/mL, ELISA, confirmed by Crithidia luciliae ), anticardiolipin IgG, anti-thyroglobulin and anti-thyroid peroxidase. Prednisone and …

中文翻译：

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LRBA 缺乏症：单基因狼疮的新遗传原因

幼年型系统性红斑狼疮 (JSLE) 被认为是一种多基因疾病，尽管单基因 SLE 和狼疮样综合征的病因正在扩大。1 2 多发性自身免疫综合征的遗传基础也正在阐明，现在包括脂多糖反应性米色样锚（ LRBA) 缺陷。3 我们报告了一名携带与 JSLE 相关的新的有害 LRBA 突变的患者。该患者为健康近亲父母所生的女孩，自 1 岁起出现反复呼吸道感染，自 7 岁起慢性非血性腹泻诊断为非特异性结肠炎、IgA 缺乏 (<1.0 mg/dL) 和关节痛。10 岁时，实验室检查显示 C1q、C2、C3、C4、CH50 和淋巴细胞计数正常，均质抗核抗体（ANA；HEp-2 1/640）和抗 dsDNA 阴性。六个月后，她出现呼吸窘迫、急性腹泻、心包积液、血清葡萄糖 724 mg/dL、抗 IAA 阳性 (42 IU/mL)，并被诊断为 1 型糖尿病 (T1D)。11岁时，她明显符合美国风湿病学会1997年SLE分类标准，表现为多关节炎、心包炎、自身免疫性溶血性贫血、脱发、持续性颧部皮疹、均质ANA（1/1280）、抗dsDNA阳性（119 IU/ mL，ELISA，由 Crithidia luciliae 证实），抗心磷脂 IgG，抗甲状腺球蛋白和抗甲状腺过氧化物酶。泼尼松和… 她明显符合美国风湿病学会 1997 年 SLE 分类标准，表现为多关节炎、心包炎、自身免疫性溶血性贫血、脱发、持续性颧部皮疹、均质 ANA (1/1280)、抗 dsDNA 阳性（119 IU/mL，ELISA，经Crithidia luciliae)、抗心磷脂 IgG、抗甲状腺球蛋白和抗甲状腺过氧化物酶。泼尼松和… 她明显符合美国风湿病学会 1997 年 SLE 分类标准，表现为多关节炎、心包炎、自身免疫性溶血性贫血、脱发、持续性颧部皮疹、均质 ANA (1/1280)、抗 dsDNA 阳性（119 IU/mL，ELISA，经Crithidia luciliae)、抗心磷脂 IgG、抗甲状腺球蛋白和抗甲状腺过氧化物酶。泼尼松和…