Novel Mutations in the UNC13D Gene Carried by a Chinese Neonate with Hemophagocytic Lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH) in different ethnicities has been described in the literature, but few cases in patients of Chinese descent have been reported. Here, we describe the case of a Chinese neonate presenting with HLH carrying novel, compound heterozygous mutations of the UNC13D gene, including [c.2295_2298delGCAG, p.Glu765Aspfs*27] in exon 23, c.-250C>T, c.1+30G>A, c.279C>T, c.888G>C, c.18+36A>G, c.20-48T>C, c.1977C>T, c.2296C>T, c.24-46C>T, c.26-9_26-8insC, c.2599A>G, c.28+48C>T and c.3198A>G, some of which have not been reported in the literature. Cytokine profile analyses were performed in this patient, and the results were consistent with our previous findings in HLH patients. Cytokine profile monitoring may be helpful in differentiating among various clinical phases of HLH.

Transfusion-associated HIV infection in pediatric leukemia patients [two cases reports]

Leukemia is the second most malignant tumor in children. The chemotherapy induced anemia [CIA] and hemorrhage are the most popular side-effects due to the myelosuppression of chemotherapy. So far, multitransfusion is still the timely and effective measure in curing these complications. The acquisition of human immunodeficiency virus [HIV] infection and subsequent development of acquired immune deficiency syndrome [AIDS] by component transfusion from donors at risk is well known, and prognosis of HIV infection is particularly severe in patients with leukemia. We report two leukemic cases that were infected with HIV through transfusion. The first patient was totally transfused with 16 U RBC, 20 U platelets and 820 ml fresh frozen plasma, and later test showed that his first used FFP carried the HIV. For the second 2 U RBC, 5 U platelets and 1500 ml fresh frozen plasma were transfused to her. Late test of her used blood products showed that the fourth RBC carried the HIV. Both results were confirmed by the local Center for Disease Control [CDC]. They were not transfused before the diagnosis of leukemia. Their parents were healthy with negative HIV-Ab. Since the two leukemic patients suffered transfusion-associated HIV with poor prognosis, we must take more efforts to utilize blood products judiciously, manage blood donors, test blood samples etiologically, shorten HIV testing "window periods" and preventive vaccination against HIV to reduce the incidence as low as possible

Preparation and evaluation of norcantharidin-encapsulated liposomes modified with a novel CD19 monoclonal antibody 2E8 / 华中科技大学学报（医学）（英德文版）

In this study, norcanthridin (NCTD)-encapsulated liposomes were modified with a novel murine anti-human CD19 monoclonal antibody 2E8 (2E8-NCTD-liposomes) and the targeting efficiency and specific cytotoxicity of 2E8-NCTD-liposomes to CD19(+) leukemia cells were evaluated. BALB/c mice were injected with 2E8 hybridoma cells to obtain 2E8 monoclonal antibody (mAb). NCTD-liposomes were prepared by using film dispersion method. 2E8 mAbs were linked to NCTD-liposomes using post-incorporation technology. Flow cytometry showed that the targeting efficiency of purified 2E8 mAbs on CD19(+) Nalm-6 cells was 99.93%. The purified 2E8 mAbs were conjugated with NCTD-liposomes to prepare 2E8-NCTD-liposomes whose targeting efficiency on CD19(+) Nalm-6 was also 95.82%. The average size of 2E8-NCTD-liposomes was 118.32 nm in diameter. HPLC showed that the encapsulation efficiency of NCTD was 46.51%. When the molar ratio of 2E8/Mal-PEG(2000)-DSPE reached 1:50, we obtained the liposomes with 9 2E8 molecules per liposome. The targeting efficiency of 2E8-NCTD-liposomes on CD19(+) leukemia cells was significantly higher than that on CD19-leukemia cells. Similarly, the targeting efficiency of the immunoliposomes was also higher than that of the NCTD-liposomes on CD19(+) leukemia cells. Those results were consistent with those observed by laser scanning confocal microscopy. 3-(4, 5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay demonstrated that 2E8-NCTD-liposomes specifically killed Nalm-6 cells in a dose- and time-dependent manner. The viability of Nalm-6 cells treated by 2E8-NCTD-liposomes was significantly lower than that of Molt-3 cells and it was also significantly lower than that of Nalm-6 cells treated with the same concentration of NCTD-liposomes or free NCTD. We are led to concluded that 2E8 antigen can serve as a specific targeting molecule of B lineage hematopoietic malignancies for liposome targeting, and 2E8-NCTD-liposomes can be used as a new and effective means for the treatment of B lineage hematopoietic malignancies.