Clinical and laboratory profiles of lymphoma patients with germline Fas mutation
| Study center . | Patient . | Sex . | Age* . | Adenopathy . | Splenomegaly . | Autoimmune disease . | DNTCs (%)† . | Cells killed (%)‡ . | ALPS1-153 . | Yr from onset1-155 . | Lymphoma . | Fas mutation . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Anemia . | Thrombocytopenia . | Neutropenia . | Autoantibodies . | ||||||||||||
| Bethesda | 3-II-1 | Male | 38 | + | + | + | − | − | + | 6.1 | 32 | + | 22 | NLP Hodgkin disease | 915A→C |
| Bethesda | 3-II-3 | Male | 27 | + | + | + | − | − | ND | ND | ND | − | 21 | T-cell–rich B lymphoma | 915A→C |
| Bethesda | 26-II-4 | Male | 54 | + | + | + | + | − | + | 0.7 | 3 | − | 48 | Burkitt lymphoma | 973A→T |
| Bethesda | 30-II-7 | Female | 30 | + | + | + | + | − | − | 5.9 | 6 | + | 15 | Burkitt lymphoma | 1074delT |
| Bethesda | 45-III-2 | Male | 12 | + | + | + | + | − | + | 11.7 | 12 | + | 6 | Hodgkin disease | 779del11 |
| Bethesda | 55-II-1 | Male | 19 | + | + | − | + | − | + | 9.7 | 1 | + | 15 | Follicular B lymphoma | 942C→T |
| New York | P9-II-4 | Male | 30 | + | + | + | − | − | ND | ND | 29 | − | 21 | Hodgkin disease | IVS7(+2)T→A |
| New York | P10-I-1 | Female | 38 | + | + | − | + | − | + | 18.0 | 5 | + | 0 | Hodgkin disease | 1003C→T |
| Germany | G3-II-8 | Male | 31 | + | − | − | − | − | ND | 4.0 | < 2 | − | 0 | Hodgkin disease; marginal zone B-cell lymphoma | 1009A→G |
| Germany | G3-III-4 | Female | 7 | + | + | − | + | − | + | 75 | 12 | + | 2 | T-cell lymphoma | 1009A→G |
| Study center . | Patient . | Sex . | Age* . | Adenopathy . | Splenomegaly . | Autoimmune disease . | DNTCs (%)† . | Cells killed (%)‡ . | ALPS1-153 . | Yr from onset1-155 . | Lymphoma . | Fas mutation . | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Anemia . | Thrombocytopenia . | Neutropenia . | Autoantibodies . | ||||||||||||
| Bethesda | 3-II-1 | Male | 38 | + | + | + | − | − | + | 6.1 | 32 | + | 22 | NLP Hodgkin disease | 915A→C |
| Bethesda | 3-II-3 | Male | 27 | + | + | + | − | − | ND | ND | ND | − | 21 | T-cell–rich B lymphoma | 915A→C |
| Bethesda | 26-II-4 | Male | 54 | + | + | + | + | − | + | 0.7 | 3 | − | 48 | Burkitt lymphoma | 973A→T |
| Bethesda | 30-II-7 | Female | 30 | + | + | + | + | − | − | 5.9 | 6 | + | 15 | Burkitt lymphoma | 1074delT |
| Bethesda | 45-III-2 | Male | 12 | + | + | + | + | − | + | 11.7 | 12 | + | 6 | Hodgkin disease | 779del11 |
| Bethesda | 55-II-1 | Male | 19 | + | + | − | + | − | + | 9.7 | 1 | + | 15 | Follicular B lymphoma | 942C→T |
| New York | P9-II-4 | Male | 30 | + | + | + | − | − | ND | ND | 29 | − | 21 | Hodgkin disease | IVS7(+2)T→A |
| New York | P10-I-1 | Female | 38 | + | + | − | + | − | + | 18.0 | 5 | + | 0 | Hodgkin disease | 1003C→T |
| Germany | G3-II-8 | Male | 31 | + | − | − | − | − | ND | 4.0 | < 2 | − | 0 | Hodgkin disease; marginal zone B-cell lymphoma | 1009A→G |
| Germany | G3-III-4 | Female | 7 | + | + | − | + | − | + | 75 | 12 | + | 2 | T-cell lymphoma | 1009A→G |
Presence (+), or absence or lack of confirmation (−) of clinical finding.
ND indicates not done; NLP Hodgkin disease, nodular lymphocyte-predominant Hodgkin disease.
When last studied, or died.
Percent of TCR α/βCD4−CD8− T cells. The laboratory normal value is < 1.0%.
Percent of cells killed after treatment with an anti-Fas MoAb. The NIH laboratory normal value is 52% ± 12% (mean ± SD).
The case does (+) or does not (−) meet the ALPS case definition. Immunophenotyping could not be done to confirm an elevated percentage of DNTCs in subjects who had died.
Time in years from manifesting first features of ALPS until lymphoma diagnosis.