LPS 反应性米色样锚蛋白（LRBA）缺陷患者的利什曼病和自身免疫。
Leishmaniasis and Autoimmunity in Patient with LPS-Responsive Beige-Like Anchor Protein (LRBA) Deficiency.
机构信息
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Allergy and Clinical Immunology Department, School of Medicine, Bushehr University of Medical Science, Bushehr, Iran.
出版信息
Endocr Metab Immune Disord Drug Targets. 2020;20(3):479-484. doi: 10.2174/1871530319666190807161546.
BACKGROUND/OBJECTIVE: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency and immune dysregulation. The authors present a case report of LPSresponsive beige-like anchor protein (LRBA) deficiency with the history of autoimmunity, enteropathy and visceral leishmaniasis. Sirolimus therapy was started for autoimmunity and enteropathy but was discontinued due to recurrent leishmaniasis. Therefore, a common side-effect of many immunosuppressive drugs in patients with LRBA deficiency is increased susceptibility to infections.
METHODS
Whole exome sequencing was performed to detect the underlying genetic mutation and Leishmania DNA was detected by the PCR technique in this patient.
RESULTS
Whole exome sequencing of the patient reported a homozygous frameshift deletion mutation in the LRBA gene (NM_006726: exon29: c.4638delC, p. S1546fs). Leishmania DNA PCR was positive in this case.
CONCLUSION
Parasite infections manifestations report in LRBA deficiency. Leishmania infections in patients with chronic diarrhea and autoimmunity should be considered for immunodeficiency.
背景/目的：脂多糖反应性米色样锚蛋白（LRBA）缺乏症是一种联合免疫缺陷和免疫失调。作者报告了一例伴有自身免疫、肠病和内脏利什曼病病史的脂多糖反应性米色样锚蛋白（LRBA）缺乏症病例。由于复发性利什曼病，开始使用西罗莫司治疗自身免疫和肠病，但因药物的常见副作用而停药。因此，LRBA 缺乏症患者许多免疫抑制药物的共同副作用是增加对感染的易感性。
方法
对患者进行全外显子组测序以检测潜在的遗传突变，并采用 PCR 技术检测利什曼原虫 DNA。
结果
报告的患者全外显子组测序显示 LRBA 基因（NM_006726：exon29：c.4638delC，p. S1546fs）存在纯合移码缺失突变。该病例的利什曼原虫 DNA PCR 检测为阳性。
结论
LRBA 缺乏症可出现寄生虫感染表现。对于有慢性腹泻和自身免疫的患者，应考虑利什曼原虫感染的免疫缺陷。
Zotero 插件