Oliveira et al reported revised criteria for the diagnosis of the autoimmune lymphoproliferative syndrome (ALPS). The criteria were developed at a 2009 NIH International Workshop.
Criteria:
(1) required
(2) primary accessory
(3) secondary accessory
Required:
(1) one or both of the following:
(1a) chronic nonmalignant, noninfectious lymphadenopathy
(1b) chronic nonmalignant, noninfectious splenomegaly
(2) both of the following:
(2a) elevated CD3+TCR(alpha,beta)+CD4-CD8- double negative T cells
(2b) normal or elevated lymphocyte count
where:
• Chronic indicates > 6 months.
• Elevated double negative T cells: >= 1.5% of total lymphocyte count OR >= 2.5% of CD3+ lymphocytes.
Primary accessory:
(1) defective lymphocyte apoptosis (in 2 separate assays)
(2) somatic or germline pathogenic mutation in CASP10, FAS or FAS ligand
Secondary accessory:
(1) elevated plasma soluble FAS ligand concentration
(2) elevated plasma or serum vitamin B12 concentration
(3) elevated plasma IL-10 concentration
(4) elevated plasma IL-18 concentration
(5) typical immunohistological findings confirmed by an experienced hematopathologist
(6) >= 1 autoimmune cytopenia (anemia, thrombocytopenia, neutropenia) AND elevated polyclonal IgG concentration (polyclonal hypergammaglobulinemia)
(7) family history of a nonmalignant or noninfectious lymphoproliferation with or without autoimmunity
Required |
Primary Accessory |
Secondary Accessory |
Diagnosis |
both |
>= 1 |
NA |
definitive |
both |
NA |
>= 1 |
probable |
Specialty: Immunology/Rheumatology, Hematology Oncology