Nariaki Toita

Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.

A 14‐year‐old Japanese girl with a progressing combined immunodeficiency had developed non‐Hodgkins diffuse large B cell lymphoma. Her molecular analysis showed a compound heterozygote of novel mutations in the LIG4 gene, M249V substitution and a five nucleotides deletion from nucleotide position 1,270–1,274. She had also a set of characteristic clinical features of LIG4 syndrome. Mutations in the LIG4 gene, which plays a critical role in the repair of DNA double‐strand breaks, imply a correlation with malignancies and several cases with leukemia or lymphoma have already been reported. We report here on a case of LIG4 syndrome complicated with distinct EBV‐associated B‐cell lymphoma.

Stem cell transplantation in primary immunodeficiency disease patients

Background: Primary immunodeficiency diseases (PID) are rare but have a high associated risk of death from overwhelming infection in early childhood. Stem cell transplantation (SCT) can be curative for PID, but standardized protocols for each disease have not yet been established.

A 5-year-old boy with unicentric Castleman disease affecting the mesentery: utility of serum IL-6 level and (18)F-FDG PET for diagnosis.

Castleman disease (CD) is a rare lymphoproliferative disorder of unknown etiology. It is quite difficult to diagnose CD without typical localized signs or symptoms. We present a 5-year-old boy with unicentric plasma cell CD in the mesentery, which was too small to be detected by any conventional imaging. (18)F-fluorodeoxyglucose positron emission tomography image and a serum cytokine profile prompted us to perform a curative surgical excision, confirming his diagnosis. Our case also supported an important role of interleukin-6 in the pathophysiology of plasma cell CD.

Long‐term therapeutic effectiveness of maintenance enteral nutrition for Crohn's disease

Long‐term effectiveness of enteral nutrition for maintaining remission in pediatric Crohns disease (CD) is poorly documented. The aim of this study was therefore to examine the long‐term effectiveness of enteral nutrition with aminosalicylates as maintenance therapy for those in whom remission was primarily induced by total parenteral nutrition or exclusive enteral nutrition with aminosalicylates.

Fusarium falciforme infection in a patient with chronic granulomatous disease: Unique long-term course of epidural abscess.

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease characterized by recurrent life‐threatening bacterial and fungal infections with granuloma formation. Species of the genus Fusarium are opportunistic environmental microorganisms that are rarely pathogenic in humans. We report here the first case of X‐linked CGD complicated with epidural abscess caused by Fusarium falciforme infection. The abscesses extended along the dura mater for >7 years and finally resulted in fatal meningitis and cervical myelitis. Early intervention with hematopoietic stem cell transplantation should be considered, especially in patients with severe CGD, before the development of serious infectious complication.

Early diagnosis for polyarthritis of juvenile idiopathic arthritis using systemic gallium scintigraphy

Ohto et al. reported that the high maternal antibody titer (64 fold or more) is a candidate risk factor for the incidence and severity of NAIT induced by anti-HPA-5b. In the present case the antibody titer of 64 was around the borderline and the clinical symptoms were not very severe. Cesarean section is recommended as the route of delivery for infants similar to the present one. This method may be less traumatic in terms of brain lesions associated with cephalohematoma. For the subsequent fetal management, in the case of severe fetal thrombocytopenia, we should consider preterm HPA genotyping using amniotic fluid, percutaneous umbilical blood sampling, and immunoglobulin administration when the fetus is affected. In conclusion, a more detailed understanding of the natural history of NAIT is necessary to identify whether anti-HPA-5a is a risk factor for intracranial hemorrhage. The resultant clinical expectations can be formulated only as more cases are encountered. Effective management of and therapy strategies for NAIT during the fetal period can then be developed.