On the lysosomal degradation of neurofibromin and its phosphorylation in cultured melanocytes.

Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in humans. Most of the NF1 gene mutations result in a reduction of the amount of neurofibromin to about 50%. Recently, we found that the level of neurofibromin can be regulated post-translationally through the alteration of its half-life.

Stable engraftment of allogeneic T lymphocytes in a patient with severe combined immunodeficiency following a transfusion with unirradiated blood. Specific recognition of host histocompatibility antigens and engraftment failure of a bone marrow transplant HLA-identical to the host.

We have analyzed the immunocompetence of blood donor-derived, allogeneic T cells that had engrafted in a patient with severe combined immunodeficiency following transfusion with unirradiated blood. The blood donor T cells multiply and persist in the patients' bone marrow and peripheral blood over several months without leading to a graft-versus-host disease. The allogeneic T cells can be expanded in vitro and restimulated by cells expressing host HLA-DR antigens.

Coagulation factor XIII A and B subunits in bone marrow and liver transplantation.

The polymorphism of the coagulation factor XIIIA and B subunits was determined before and after bone marrow or liver transplantation. It could be shown that the FXIIIA phenotype of the recipient was replaced by donor phenotype after bone marrow transplantation, whereas the phenotype of FXIIIB remained of recipient origin. In contrast, the FXIIIB phenotype changed to donor type after orthotopic liver transplantation but not the FXIIIA phenotype.

A patient, mosaic for Rh and Fy antigens lacking other signs of chimerism or chromosomal disorder.

A patient who shows two populations of RBC, differing in their Rh and Fy antigens, was investigated but no other sign of chimerism or mosaicism in a variety of other antigenic systems, including serum and enzyme polymorphisms and HLA antigens, was observed. His karyotype, as investigated on lymphocyte and fibroblast cultures, was normal. Possible explanations of the observed phenomenon are discussed.

Consequences of recurrent phosphate trapping induced by repeated injections of 2-deoxy-D-galactose. Biochemical and morphological studies in rats.

2-Deoxy-D-galactose, in a dose of 3 mmol/kg, was administered intraperitoneally twice daily to young rats for periods up to 12 weeks. This dosage schedule resulted in recurrent phosphate trapping predominantly in liver. UTP deficiency was excluded by simultaneous uridine injections.