Norikazu Hatano

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.

Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.

X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two patients with CGS involving CYBB by array comparative genomic hybridization and the following PCR and DNA walking studies. The deletion size was 3.5 Mb in Patient 1 and 0.8 Mb in Patient 2. There were no homologous architectural features between the telomeric and centromeric breakpoint junctions in the deletions of either patient. However, the telomeric breakpoint of Patient 2 was embedded in a stretch of low-copy repeats and the centromeric breakpoint was also embedded in a stretch of short segments with significant sequence homology. These findings suggest the potential involvement of genome architecture in stimulating genomic rearrangements in Patient 2.

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.