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. Author manuscript; available in PMC: 2023 Aug 11.
Published in final edited form as: Arch Pathol Lab Med. 2019 Apr 8;144(2):245–251. doi: 10.5858/arpa.2018-0190-RS

Table 1.

Revised Diagnostic Criteria for the Diagnosis of ALPSa

Required

  1. Chronic (> 6 months), nonmalignant, noninfectious lymphadenopathy or splenomegaly or both

  2. Elevated CD3+, T-cell receptor αβ+, CD4−, CD8− double negative T-cells (≥ 1.5% of total lymphocytes or 2.5% of CD3+ lymphocytes) in the setting of normal or elevated lymphocyte counts

Accessory
   Primary

  1. Defective lymphocyte apoptosis (2 separate assays)

  2. Somatic or germline pathogenic mutation in FAS, FASL, or CASP10

   Secondary

  1. Elevated plasma soluble FAS ligand levels (>200 pg/mL) OR elevated plasma interleukin-10 levels (>20 pg/mL) OR elevated serum or plasma vitamin B12 levels (>1500 ng/L) OR elevated plasma interleukin-18 levels (>500 pg/mL)

  2. Typical immunohistological findings as reviewed by an experienced hematopathologist

  3. Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) AND elevated immunoglobulin G levels (polyclonal hypergammaglobulinemia)

  4. Family history of a nonmalignant/noninfectious lymphoproliferation with or without autoimmunity

Abbreviations: ALPS, autoimmune lymphoproliferative syndrome; FAS, first apoptosis signal receptor; FASL, first apoptosis signal receptor ligand; CASP10, caspase 10.

a

A definitive diagnosis must meet both required criterion and at least one primary accessory criteria. A probable diagnosis can be made based on the presence of both required criterion and at least one secondary accessory criteria.