Details of patients with primary immunodeficiency/immunodysregulatory syndromes complicated by LPD undergoing hematopoetic SCT
| No. . | Sex . | Diagnosis . | Immunologic abnormality . | Age at LPD, y . | LPD clinical . | LPD histology . | EBV-ISH (EBER) . | LPD therapy . | EBV load at start of transplantation . | Therapy at time of BMT . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Female | Undefined CID | Low IgA, low IgM, poor PHA response | 12 | Retroperitoneal and pulmonary disease | Monomorphic LPD—DLBCL | + | COP (no response), followed by rituximab | Detected (not quantified) | Weekly rituximab |
| 2 | Male | WAS | Poor PHA | 17 | Cutaneous lesion right thigh* | Monomorphic LPD—LyG | + | Rituximab 4 times | Not detected | None |
| 3 | Male | IE | No specific laboratory abnormality identified | 2 | Cervical lymphadenoapthy and pulmonary infiltration | Monomorphic LPD—DLBCL | + | COP 4 times, followed by rituximab | Not detected | None |
| 4 | Female | Undefined CID | Low IgM, poor PHA | 2 | Cervical lymphadenopathy | HD—mixed cellularity | + | ChlVPP 6 times; local recurrence after 2 mo, Rx mini-BEAM and local DXT | Not detected | None |
| 5 | Male | ALPS-like | 6% DN T cells; absent B cells, low CD4 cells | 6 | Cervical lymphadenopathy | HD stage 1A | Unknown | Chemotherapy and local DXT; 1st relapse: Rx ABDV 6 times; 2nd relapse (stage IV disease): Rx ifosfamide/ cisplatinum/ etoposide | Not detected | Weekly rituximab |
| 6 | Female | CHH | Absent PHA, lymphopenia | 11 | Liver lesion, pleural effusion, CNS involvement on MRI brain | Monomorphic LPD—DLBCL | + | COP, followed by rituximab; IT MTX/steroids | Not detected | None |
| 7 | Male | XLP | Absent SAP expression | 3 | Small bowel tumor complicated by perforation | Monomorphic LPD—DLBCL | − | COP, surgical resection, COPADM 2 times. | Not detected | None |
| 8 | Female | ALPS-like (DALD) | Not tested (on immunosuppresive therapy) | 7 | Abdominal and thoracic lymphadenopathy with lung infiltrates | Large T-cell small B-cell angioimmunoblastic LPD | − | Rituximab and steroids | Not detected | None |
| No. . | Sex . | Diagnosis . | Immunologic abnormality . | Age at LPD, y . | LPD clinical . | LPD histology . | EBV-ISH (EBER) . | LPD therapy . | EBV load at start of transplantation . | Therapy at time of BMT . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Female | Undefined CID | Low IgA, low IgM, poor PHA response | 12 | Retroperitoneal and pulmonary disease | Monomorphic LPD—DLBCL | + | COP (no response), followed by rituximab | Detected (not quantified) | Weekly rituximab |
| 2 | Male | WAS | Poor PHA | 17 | Cutaneous lesion right thigh* | Monomorphic LPD—LyG | + | Rituximab 4 times | Not detected | None |
| 3 | Male | IE | No specific laboratory abnormality identified | 2 | Cervical lymphadenoapthy and pulmonary infiltration | Monomorphic LPD—DLBCL | + | COP 4 times, followed by rituximab | Not detected | None |
| 4 | Female | Undefined CID | Low IgM, poor PHA | 2 | Cervical lymphadenopathy | HD—mixed cellularity | + | ChlVPP 6 times; local recurrence after 2 mo, Rx mini-BEAM and local DXT | Not detected | None |
| 5 | Male | ALPS-like | 6% DN T cells; absent B cells, low CD4 cells | 6 | Cervical lymphadenopathy | HD stage 1A | Unknown | Chemotherapy and local DXT; 1st relapse: Rx ABDV 6 times; 2nd relapse (stage IV disease): Rx ifosfamide/ cisplatinum/ etoposide | Not detected | Weekly rituximab |
| 6 | Female | CHH | Absent PHA, lymphopenia | 11 | Liver lesion, pleural effusion, CNS involvement on MRI brain | Monomorphic LPD—DLBCL | + | COP, followed by rituximab; IT MTX/steroids | Not detected | None |
| 7 | Male | XLP | Absent SAP expression | 3 | Small bowel tumor complicated by perforation | Monomorphic LPD—DLBCL | − | COP, surgical resection, COPADM 2 times. | Not detected | None |
| 8 | Female | ALPS-like (DALD) | Not tested (on immunosuppresive therapy) | 7 | Abdominal and thoracic lymphadenopathy with lung infiltrates | Large T-cell small B-cell angioimmunoblastic LPD | − | Rituximab and steroids | Not detected | None |
EBV-ISH indicates EBV in situ hybridization; CID, combined immunodeficiency manifesting as lymphopenia, poor mitogen responses, hypogammaglobulinemia, and recurrent infections; WAS, mutation-confirmed Wiskott-Aldrich syndrome; ALPS-like, autoimmune lymphoproliferative syndrome without confirmation of genetic mutation; CHH, cartilage-hair hypoplasia; IE, intractable ulcerating enterocolitis of infancy; XLP, x-linked lymphoproliferative syndrome; LyG, lymphomatoid granulomatosis; DLBCL, diffuse large B-cell lymphoma; HD, Hodgkin disease; COP, cyclophosphamide/vincristine/prednisolone; ChlVPP, chlorambucil/vincristine/prednisolone/procarbazine; BEAM, carmustine/etoposide/cytarabine/melphalan; DXT, radiotherapy; ABVD, adriamycin/bleomycin/vincristine/dacarbazine; MTX, methotrexate; COPADM, cyclophosphamide/vincristine/prednisolone/adriamicin/methotrexate; and DN, double-negative.
Previously reported.10