. Author manuscript; available in PMC: 2015 May 18.

Published in final edited form as: Curr Opin Pediatr. 2013 Dec;25(6):722–729. doi: 10.1097/MOP.0000000000000032

Table 1.

Diagnostic criteria for ALPS based on International ALPS Workshop 2009.

Revised diagnostic criteria for ALPS based on First International ALPS Workshop 2009

Required criteria

1. Chronic (> 6 months), nonmalignant, noninfectious lymphadenopathy and/or splenomegaly
2. Elevated CD3⁺ TCRαβ⁺CD4⁻ CD8⁻ DNT cells (> 1.5% of total lymphocytes or > 2.5% of CD3⁺ lymphocytes) in the setting of normal or elevated lymphocyte counts

Additional criteria
Primary
1. Defective lymphocyte apoptosis in 2 separate assays
2. Somatic or germline pathogenic mutation in FAS, FASLG, or CASP10
Secondary
3. Elevated plasma sFASL levels (> 200 pg/mL), plasma IL-10 levels (> 20 pg/mL), serum or plasma vitamin B₁₂ levels (> 1500 ng/L) or plasma IL-18 levels > 500 pg/mL
4. Typical immunohistologic findings as reviewed by a hematopathologist
5. Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) with elevated IgG levels (polyclonal hypergammaglobulinemia)
6. Family history of a nonmalignant/noninfectious lymphoproliferation with or without autoimmunity
Definitive diagnosis: Both required criteria plus one primary accessory criterion.
Probable diagnosis: Both required criteria plus one secondary accessory criterion. Treat as ALPS until genetics can be done.

Adapted from [4]