Autoimmune lymphoproliferative syndrome laboratory findings

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Editor-In-Chief: Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] David Teachey, MD [2] Associate Editor(s)-in-Chief: Sharmi Biswas, M.B.B.S

Overview

An elevated concentration of serum double negative α/β T cells comprising more than 1.5% of the total lymphocytes or at least 2.5% of total T cells along with chronic lymphadenopathy or splenomegaly for more than 6 months are the two required testing for clinical diagnosis of Autoimmune lymphoproliferative syndrome which leads to ancillary testing. Confirmatory testing for ALPS is the testing for the ALPS-related mutations or functional testing of patient T cells are requires according to the 2010 guidelines.

Laboratory Findings

In peripheral blood-

• Increased T cell receptor (TCR) αβ+/CD4-/CD8- T cells

• Increased lymphoid tissue

• Co-expression of CD45RA,CD57,CD27,CD28, perforin, and HLA-DR in the DNT cells but lacking CD45R0 and CD56

• Cytopenia