Molecular tests for FAS, FASLG or CASP10 gene mutation were negative.
Plasma Vit B12 elevated
Diagnosis:
Probable Autoimmune Lymphoproliferative Syndrome (ALPS):
Table 2. Revised diagnostic criteria for ALPS 2010
Required
1. Chronic ( 6 months), nonmalignant, noninfectious lymphadenopathy or splenomegaly or both
2. Elevated CD3+TCRab+CD4-CD8- DNT cells ( >=1.5% of total lymphocytes or 2.5% of CD3+ lymphocytes) in the setting of normal or elevated lymphocyte counts
Accessory
Primary
1. Defective lymphocyte apoptosis (in 2 separate assays)
2. Somatic or germline pathogenic mutation in FAS, FASLG, or CASP10
Secondary
1. Elevated plasma sFASL levels (>200 pg/mL) OR elevated plasma interleukin-10 levels (>20 pg/mL) OR elevated serum or plasma vitamin B12 levels ( >1500 ng/L) OR elevated plasma interleukin-18 levels > 500 pg/mL
2. Typical immunohistological findings as reviewed by an experienced hematopathologist
3. Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) AND elevated immunoglobulin G levels (polyclonal hypergammaglobulinemia)
4. Family history of a nonmalignant/noninfectious lymphoproliferation with or without autoimmunity
A definitive diagnosis is based on the presence of both required criteria plus one primary accessory criterion. A probable diagnosis is based on the presence of both required criteria plus one secondary accessory criterion.
Plasma Vit B12 elevated
Diagnosis:
Probable Autoimmune Lymphoproliferative Syndrome (ALPS):
Table 2. Revised diagnostic criteria for ALPS 2010
Required
1. Chronic ( 6 months), nonmalignant, noninfectious lymphadenopathy or splenomegaly or both
2. Elevated CD3+TCRab+CD4-CD8- DNT cells ( >=1.5% of total lymphocytes or 2.5% of CD3+ lymphocytes) in the setting of normal or elevated lymphocyte counts
Accessory
Primary
1. Defective lymphocyte apoptosis (in 2 separate assays)
2. Somatic or germline pathogenic mutation in FAS, FASLG, or CASP10
Secondary
1. Elevated plasma sFASL levels (>200 pg/mL) OR elevated plasma interleukin-10 levels (>20 pg/mL) OR elevated serum or plasma vitamin B12 levels ( >1500 ng/L) OR elevated plasma interleukin-18 levels > 500 pg/mL
2. Typical immunohistological findings as reviewed by an experienced hematopathologist
3. Autoimmune cytopenias (hemolytic anemia, thrombocytopenia, or neutropenia) AND elevated immunoglobulin G levels (polyclonal hypergammaglobulinemia)
4. Family history of a nonmalignant/noninfectious lymphoproliferation with or without autoimmunity
A definitive diagnosis is based on the presence of both required criteria plus one primary accessory criterion. A probable diagnosis is based on the presence of both required criteria plus one secondary accessory criterion.