Multiple colorectal neoplasms in X-linked agammaglobulinemia

被引：30

作者：

Brosens, Lodewijk A. A. ^{[1
]}

Tytgat, Kristien M. A. J. ^{[6
]}

Viorsink, Folkert H. M. ^{[1
]}

Sinke, Richard J. ^{[2
]}

Ten Berge, Ineke J. N. ^{[4
]}

Giardiello, Francis M. ^{[5
]}

Offerhaus, G. Johan A. ^{[1
]}

Keller, Josbert J. ^{[3
]}

机构：

[1] Univ Med Ctr, Dept Pathol, NL-3584 CX Utrecht, Netherlands

[2] Univ Med Ctr, Dept Biomed Genet, NL-3584 CX Utrecht, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Dept Gastroenterol, NL-1105 AZ Amsterdam, Netherlands

[4] Univ Amsterdam, Acad Med Ctr, Dept Med, NL-1105 AZ Amsterdam, Netherlands

[5] Johns Hopkins Univ, Sch Med, Dept Med, Div Gastroenterol, Baltimore, MD 21205 USA

[6] Univ Med Ctr, Dept Gastroenterol, NL-3584 CX Utrecht, Netherlands

来源：

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY | 2008年 / 6卷 / 01期

关键词：

D O I：

10.1016/j.cgh.2007.08.019

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. It is characterized by disturbed B-cell development, decreased immunoglobulin levels, and increased patient susceptibility to infection. An increased risk of cancer has been suggested, but most reports were described before the identification of BTK gene mutation as the cause of XLA. Here we describe 2 patients with genetically ascertained XLA and multiple colorectal neoplasms, supporting an increased risk of colorectal cancer in XLA and highlighting the potential importance of colorectal surveillance in these patients.

引用

页码：115 / 119

页数：5

共 21 条

[21] X-linked Agammaglobulinemia - Report on a United States registry of 201 patients [J].

Winkelstein, Jerry A. ;

Marino, Mary C. ;

Lederman, Howard M. ;

Jones, Staeie M. ;

Sullivan, Kathleen ;

Burks, A. Wesley ;

Conley, Mary Ellen ;

Cunningham-Rundles, Charlotte ;

Ochs, Hans D. .

MEDICINE, 2006, 85 (04) :193-202

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