Revised diagnostic criteria for ALPS based on First International ALPS Workshop 200936
| 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. |
| 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. |