Section of Infectious Diseases and Immunology, Nationwide Children's Hospital, Columbus, OH, USA.
J Clin Immunol. 2012 Feb;32(1):78-81. doi: 10.1007/s10875-011-9608-5. Epub 2011 Nov 17.
Chronic granulomatous disease (CGD), a genetically heterogeneous primary X-linked or autosomal recessive immunodeficiency, can manifest with gastrointestinal symptoms, including colitis or Crohn's disease. The frequency of CGD carriers among those with chronic colitis/inflammatory bowel disease is unknown. We underwent a pilot study examining the value of prospectively screening patients with chronic colitis/inflammatory bowel disease (IBD) for either CGD or the carrier state of CGD. No carriers of CGD or patients with CGD were detected among 120 patients. Three patients had inconclusive results and the assay was normal on repeat testing. We conclude that routine screening for CGD was not instructive in this cohort of chronic colitis or IBD patients.
慢性肉芽肿病（CGD）是一种遗传异质性的原发性 X 连锁或常染色体隐性免疫缺陷病，可表现为胃肠道症状，包括结肠炎或克罗恩病。慢性结肠炎/炎症性肠病患者中 CGD 携带者的频率尚不清楚。我们进行了一项试点研究，前瞻性地筛查慢性结肠炎/炎症性肠病（IBD）患者是否存在 CGD 或 CGD 携带者状态。在 120 名患者中未发现 CGD 携带者或 CGD 患者。3 名患者的结果不确定，重复检测时检测结果正常。我们得出结论，在这组慢性结肠炎或 IBD 患者中，常规筛查 CGD 没有意义。
