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
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