Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran and the University of Medical Science, Tehran, Iran.
Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Clin Immunol. 2019 Aug;205:35-42. doi: 10.1016/j.clim.2019.05.007. Epub 2019 May 13.
Defects in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) are closely related to very early onset (infantile) inflammatory bowel disease (VEO-IBD). In the present study, we report a novel homozygous null mutation within interleukin-10 receptor B (IL10RB) gene in a child presenting with severe VEO-IBD. In accordance with previous reports, our patient manifested with chronic diarrhea, failure to thrive, intermittent fever and multiple anal ulcers associated with Candidiasis. Homozygous null mutation within IL10RB gene (c.92C > T, p.S31P) affecting the extracellular domain of protein was discovered in this patient. In conclusion, the diagnosis of IL-10R gene mutations should always be considered as a possible cause of refractory diarrhea and failure to thrive. Mutation analysis could help detect the genetic defects associated with these clinical manifestations and to determine the most appropriate treatment option for patients affected by this disease.
白细胞介素-10（IL-10）和白细胞介素-10 受体（IL10R）的缺陷与非常早发（婴儿期）炎症性肠病（VEO-IBD）密切相关。在本研究中，我们报道了一名患有严重 VEO-IBD 的儿童中白细胞介素-10 受体 B（IL10RB）基因内的新型纯合缺失突变。与先前的报道一致，我们的患者表现为慢性腹泻、生长不良、间歇性发热和伴有念珠菌病的多发性肛门溃疡。在该患者中发现了影响蛋白胞外域的 IL10RB 基因（c.92C>T，p.S31P）内纯合缺失突变。总之，应始终将 IL-10R 基因突变的诊断视为难治性腹泻和生长不良的可能原因。突变分析可以帮助检测与这些临床表现相关的遗传缺陷，并确定受这种疾病影响的患者的最佳治疗选择。
