Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University School of Medicine, Daegu, South Korea.
Front Immunol. 2021 Aug 12;12:698721. doi: 10.3389/fimmu.2021.698721. eCollection 2021.
The gastrointestinal (GI) tract is frequently affected by inborn errors of immunity (IEI), and GI manifestations can be present in IEI patients before a diagnosis is confirmed. We aimed to investigate clinical features, endoscopic and histopathologic findings in IEI patients. This was a retrospective cohort study conducted from 1995 to 2020. Eligible patients were diagnosed with IEI and had GI manifestations that were enough to require endoscopies. IEI was classified according to the International Union of Immunological Societies classification. Of 165 patients with IEI, 55 (33.3%) had GI manifestations, and 19 (11.5%) underwent endoscopy. Among those 19 patients, nine (47.4%) initially presented with GI manifestations. Thirteen patients (68.4%) were male, and the mean age of patients 11.5 ± 7.9 years (range, 0.6 - 26.6) when they were consulted and evaluated with endoscopy. The most common type of IEI with severe GI symptoms was "Disease of immune dysregulation" (31.6%) followed by "Phagocyte defects" (26.3%), according to the International Union of Immunological Societies classification criteria. Patients had variable GI symptoms such as chronic diarrhea (68.4%), hematochezia (36.8%), abdominal pain (31.6%), perianal disease (10.5%), and recurrent oral ulcers (10.5%). During the follow-up period, three patients developed GI tract neoplasms (early gastric carcinoma, mucosa associated lymphoid tissue lymphoma of colon, and colonic tubular adenoma, 15.8%), and 12 patients (63.2%) were diagnosed with inflammatory bowel disease (IBD)-like colitis. Investigating immunodeficiency in patients with atypical GI symptoms can provide an opportunity for correct diagnosis and appropriate disease-specific therapy. Gastroenterologists and immunologists should consider endoscopy when atypical GI manifestations appear in IEI patients to determine if IBD-like colitis or neoplasms including premalignant and malignant lesions have developed. Also, if physicians in various fields are better educated about IEI-specific complications, early diagnosis and disease-specific treatment for IEI will be made possible.
胃肠道（GI）经常受到先天性免疫缺陷（IEI）的影响，在确诊之前，IEI 患者可能已经出现 GI 表现。我们旨在研究 IEI 患者的临床特征、内镜和组织病理学发现。这是一项回顾性队列研究，于 1995 年至 2020 年进行。符合条件的患者被诊断为 IEI 并出现足够严重的 GI 表现，需要进行内镜检查。IEI 根据国际免疫学会联合会分类进行分类。在 165 例 IEI 患者中，55 例（33.3%）有 GI 表现，19 例（11.5%）进行了内镜检查。在这 19 例患者中，有 9 例（47.4%）最初表现为 GI 症状。13 例（68.4%）为男性，患者在接受咨询和内镜评估时的平均年龄为 11.5±7.9 岁（范围 0.6-26.6）。根据国际免疫学会联合会分类标准，最常见的伴有严重 GI 症状的 IEI 类型是“免疫失调性疾病”（31.6%），其次是“吞噬细胞缺陷”（26.3%）。患者有不同的 GI 症状，如慢性腹泻（68.4%）、血便（36.8%）、腹痛（31.6%）、肛周疾病（10.5%）和复发性口腔溃疡（10.5%）。在随访期间，有 3 例患者（15.8%）发展为 GI 道肿瘤（早期胃癌、结肠黏膜相关淋巴组织淋巴瘤和结肠管状腺瘤），12 例患者（63.2%）被诊断为炎症性肠病（IBD）样结肠炎。对具有非典型 GI 症状的患者进行免疫缺陷检查可提供正确诊断和针对特定疾病的治疗机会。当 IEI 患者出现非典型 GI 表现时，胃肠病学家和免疫学家应考虑进行内镜检查，以确定是否出现 IBD 样结肠炎或包括癌前和恶性病变在内的肿瘤。此外，如果各领域的医生对 IEI 特异性并发症有更好的了解，就可以实现对 IEI 的早期诊断和针对特定疾病的治疗。
