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Korean J Gastrointest Endosc. 2010 Jan;40(1):27-30. Korean. Case Report.
Ok CS , Lee JH , Noh JW , Sohn SY , Chang BS , Ku BH , Koh WJ , Sung CO .
Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. stomachlee@skku.edu
Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Abstract

X-linked agammaglobulinemia is a common type of primary immunodeficiency disorder that's caused by mutation of the BTK gene. The absence of B lymphocytes and plasma cells causes recurrent infections. Patients with X-linked agammaglobulinemia also have a high risk for developing hematological malignancies and, to a lesser degree, carcinoma. We report here on a 26-years-old male patient who suffered with X-linked agammaglobulinemia that was caused by BTK gene mutation, and he developed a gastric cancer in the antrum. He was noted to have chronic atrophic gastritis and diffuse intestinal metaplasia on the endoscopic examination that was done 7 years previously. We recommend regular esophagogastroduodenoscopic evaluation for a patient with X-linked agammaglobulinemia in order to make an early diagnosis of stomach carcinoma.

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