X-linked inhibitor of apoptosis protein (
Pure red cell aplasia (PRCA) has various etiologies, including congenital or acquired conditions such as a viral infection . The acquired PRCA is related to an underlying disease or viral infection with parvovirus 19 . EBV infection in the post-transplantation state or enzyme deficiency contributed to the development of the aplastic crisis [7,8]. Here, we report a case of
An 8-year-old boy was admitted nine times because of recurrent pneumonia and acute otitis media since the age of 3 years. He was diagnosed with PRCA at 13 months of age, which was controlled by repeated transfusions and prednisolone with cyclosporine. At diagnosis, a bone marrow study showed the arrest of erythroid lineage maturation. A viral study showed positive parvovirus B19 and cytomegalovirus (CMV) by serology and RQ-PCR. We did not have any genetic results for Diamond-Blackfan anemia. Five months later, he was admitted because of remittent fever with enlarged cervical lymph nodes that had progressed for 2 weeks. His laboratory data showed hemoglobin 7.7 g/dL, platelet 100,000/μL, ferritin 788 ng/mL, fibrinogen 146 mg/dL, and triglyceride 199 mg/dL. PCR for virus showed persistent positivity of parvovirus B19 and CMV and was newly identified for EBV. We performed lymph node biopsy and PET-CT, the results of which were compatible with diffuse large B-cell lymphoma positive for EBV (Fig. 1). He received six courses of chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone. He achieved com-plete response, but still showed fluctuation of hemoglobin. Immunoglobulin levels were within the age-matched normal range until the completion of chemotherapy.
The patient was diagnosed with bronchopneumonia based on physical and radiologic findings. Viral studies were still positive for parvovirus B19, but negative for CMV and EBV. We evaluated immunoglobulin (Ig) level and lymphocyte subsets due to recurrent infection and rituximab-containing chemotherapy. The lymphocyte subset showed CD3 83.6%, CD4 18.8%, CD8 31.6%, CD19 0.4%, CD56 13.9%, and CD3+CD56+ 8.9%, while the Ig levels were IgG: 30 mg/dL (normal range: 870-1,700 mg/dL), IgA: below 1.0 mg/dL (normal range: 110-401 mg/dL), IgM: 36 mg/dL (normal range: 33-190 mg/dL), and IgE: below 1.0 IU/mL (normal range: <52 IU/mL). We performed a genetic study of immunodeficiency based on EBV-associated lymphoma and repeated infection. A genetic study showed a hemizygous in-frame deletion mutation of c.1045_1047delGAG, p.(Glu350del), consistent with
Here, we present a case of
In this patient, the initial finding was PRCA with an identification of the parvovirus and CMV. These findings may lead to excessive apoptosis of virus-infected erythroid cell lineage and overproduction of inflammatory cytokines to bone marrow precursors [3,5,10]. However, we could not identify the underlying disease at that time, although Diamond-Blackfan disease was ruled out through genetic study.
The patient was developed EBV-associated diffuse large B-cell lymphoma and received chemotherapy with rituximab and achieved complete response without relapse until the diagnosis of
The Ig level was nearly within normal until the completion of chemotherapy with rituximab in this patient. After a complete response, he suffered from recurrent infections, including pneumonia and acute otitis media. Hypogammaglobulinemia with low B cells was also observed in the patient. This mechanism may develop due to EBV infection. He was diagnosed with EBV-associated lymphoma, and received rituximab, and experienced recurrent infections. In
The optimal treatment for
Here, we present a case of
The authors have no conflict of interest to declare.