Multiple colorectal neoplasms in X-linked agammaglobulinemia. | Read by QxMD (original) (raw)
Case Reports
Journal Article
Lodewijk A A Brosens, Kristien M A J Tytgat, Folkert H M Morsink, Richard J Sinke, Ineke J M Ten Berge, Francis M Giardiello, G Johan A Offerhaus, Josbert J Keller
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.
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