Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Clin Immunol. 2022 Jul;240:109047. doi: 10.1016/j.clim.2022.109047. Epub 2022 May 22.
Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract. Treatment for patients who have a monogenic cause of their IBD, often the youngest children, known as very early onset IBD (VEO-IBD), can be different from standard treatment for polygenic cases. Yet, ascertainment of these patients is difficult.
We analyzed cases of VEO-IBD to understand the breadth of monogenic etiology and to identify clinical, laboratory, and flow cytometric correlates of this subpopulation.
Genetic causes of very early onset inflammatory bowel disease are highly diverse ranging from pure epithelial defects to classic T cell defects. Flow cytometry, other than testing for chronic granulomatous disease, has a low sensitivity for monogenic etiologies. Poor growth was a clinical feature associated with monogenic causality.
Genetic testing is, at this moment, the most robust method for the identification of monogenic cases of very early onset IBD.
炎症性肠病（IBD）是一种胃肠道的慢性炎症性疾病。对于那些由单基因引起 IBD 的患者，通常是最小的儿童，称为非常早发性 IBD（VEO-IBD），其治疗方法可能与多基因病例的标准治疗不同。然而，这些患者的确定具有一定难度。
我们分析了 VEO-IBD 的病例，以了解单基因病因的广泛程度，并确定该亚群的临床、实验室和流式细胞术相关性。
非常早发性炎症性肠病的遗传病因高度多样化，从纯上皮缺陷到经典 T 细胞缺陷均有涉及。除了检测慢性肉芽肿病外，流式细胞术对于单基因病因的敏感性较低。生长不良是与单基因因果关系相关的临床特征。
目前，基因检测是识别非常早发性 IBD 的单基因病例的最有效方法。
