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KMID : 0359020100410060360
Korean Journal of Gastrointestinal Endoscopy
2010 Volume.41 No. 6 p.360 ~ p.363
A Case of Rectal Cancer in a Patient with X-linked Agammagloubulinemia
Jeon Byung-Jun

Kim San-Wook
Ko Kang-Suk
Kim Seong-Hun
Kim In-Hee
Lee Seung-Ok
Lee Soo-Teik
Kim Dae-Ghon
Abstract
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. Most of the patients diagnosed X-LA suffer from recurrent infections of the respiratory and gastrointestinal tracts. Increased risk of malignancy in X-LA patients include lymphoma, gastric cancer, colorectal cancer. We report a case of 32-years-old male patient with X-linked agammagolbulinemia and rectal cancer. Agammaglobulinemia was diagnosed at 13 years old. He underwent colonoscopy for hematochezia. An ulceroinfiltrative mass was found during colonscopy and biopsy revealed moderately differentiated adenocarcinoma. Subsequently, he underwent a anterior resection.
KEYWORD
X-linked agammaglobulinemia, Rectal cancer
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학술진흥재단(KCI) KoreaMed 대한의학회 회원