What is the role of lab testing in the workup of X-linked lymphoproliferative (XLP) syndrome?

Updated: Jan 27, 2019
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Laboratory findings in X-linked lymphoproliferative (XLP) syndrome include the following:

  • Peripheral blood smears will show atypical lymphocytosis.
  • Serum chemistry profiles will show transaminitis and other findings of acute hepatitis.
  • Coagulation studies will be abnormal in patients with liver failure.

Patients with acute Epstein-Barr virus (EBV) infection will demonstrate positive serologic tests for EBV IgM antibodies and quantitative EBV-specific polymerase chain reaction (EBV-PCR). However, as many as one third of patients in the acute infection phase do not produce antibodies, probably due to impaired lymphocyte function and response to EBV antigens.

A definitive diagnosis of XLP is with mutation analysis for the SH2D1A or XIAP gene mutation. Flow cytometry can be used to measure lymphocyte SAP or XIAP protein expression and can be used to detect lymphocyte phenotypes and functional defects related to XLP. [15, 16]

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