Required criteria |
|
Evidence of Lymphoproliferation |
Inguinal lymphadenopathy without
infectious cause requiring lymph node resection |
Double negative T cells |
CD3+ CD4-CD8- T cells elevated to
7% |
Primary accessory criteria |
|
Defective lymphocyte apoptosis |
FAS-mediated apoptosis decreased at 8%
(normal range 57-100%) |
Pathogenic FAS |
*FAS mutation identified, although not known to be
pathogenic |
Secondary accessory criteria |
|
Elevated biomarkers |
Elevated B12, soluble FAS ligand, IL-2, IL-10, and
IL-18 |
Autoimmune cytopenias |
Severe anemia (Hemoglobin low of 2.1 g/dL),
neutropenia (Absolute neutrophil count low of 80/mcL), thrombocytopenia
(Platelet count low of 2 k/mcL) |
Immunohistologic findings |
Lymph node biopsy showed histiocytosis,
positive for CD68 and S100 |