Autoimmune lymphoproliferative syndrome classification

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

Overview

Classification of ALPS is based on the recommendations made by first international ALPS workshop held at National Institutes of Health in 2009.

Classification

The presence of 2 required and 6 additional criteria are required to diagnose Autoimmune lymphoproliferative syndrome(ALPS).

Required criteria-

• Chronic lymphadenopathy

• Splenomegaly (+/-)

• Increased circulating TCRαβ+ DNT cells

Additional criteria-

• Primary

- Abnormal lymphocyte apoptosis assay

- Presence of pathogenic mutations in FAS pathway genes

• Secondary-

- Elevated circulating biomarkers

- characteristic histopathology of ALPS

- Family history of ALPS

Definitive diagnosis of ALPS- 2 required criteria and either of the 2 primary additional criteria

Probable diagnosis- 2 required criteria and one of the primary additional criteria

Previous nomenclature Revised nomenclature Gene Definition ALPS type IIb CEDS CASP8 Patients present with lymphadenopathy and/or splenomegaly, marginal DNT elevation, recurrent infections, and germline mutations in caspase 8. ALPS type IV RALD NRAS Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, elevated or normal DNTs, and somatic mutations in NRAS. DALD DALD Unknown Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, normal DNTs, and defective in vitro FAS-mediated apoptosis. XLP1 XLP1 SH2D1A Patients present with fulminant Epstein-Barr virus infection, hypogammaglobulinemia, or lymphoma.