1: N Engl J Med 1993 Mar 18;328(11):745-9

Chimerism after liver transplantation for type IV glycogen storage disease an
type 1 Gaucher's disease

Starzl TE, Demetris AJ, Trucco M, Ricordi C, Ildstad S, Terasaki PI, Murase N,
Kendall RS, Kocova M, Rudert WA, et al
Pittsburgh Transplant Institute, University of Pittsburgh Health Science Center 
Abstract
BACKGROUND. Liver transplantation for type IV glycogen storage disease
(branching-enzyme deficiency) results in the resorption of extrahepatic deposits
of amylopectin, but the mechanism of resorption is not known. METHODS. We
studied two patients with type IV glycogen storage disease 37 and 91 months
after liver transplantation and a third patient with lysosomal
glucocerebrosidase deficiency (type 1 Gaucher's disease), in whom tissue
glucocerebroside deposition had decreased 26 months after liver replacement, to
determine whether the migration of cells from the allograft (microchimerism)
could explain the improved metabolism of enzyme-deficient tissues in the
recipient. Samples of blood and biopsy specimens of the skin, lymph nodes,
heart, bone marrow, or intestine were examined immunocytochemically with the use
of donor-specific monoclonal anti-HLA antibodies and the polymerase chain
reaction, with preliminary amplification specific to donor alleles of the gene
for the beta chain of HLA-DR molecules, followed by hybridization with
allele-specific oligonucleotide probes. RESULTS. Histopathological examination
revealed that the cardiac deposits of amylopectin in the patients with glycogen
storage disease and the lymph-node deposits of glucocerebroside in the patient
with Gaucher's disease were dramatically reduced after transplantation.
Immunocytochemical analysis showed cells containing the HLA phenotypes of the
donor in the heart and skin of the patients with glycogen storage disease and in
the lymph nodes, but not the skin, of the patient with Gaucher's disease.
Polymerase-chain-reaction analysis demonstrated donor HLA-DR DNA in the heart of
both patients with glycogen storage disease, in the skin of one of them, and in
the skin, intestine, blood, and bone marrow of the patient with Gaucher's
disease. CONCLUSIONS. Systemic microchimerism occurs after liver
allotransplantation and can ameliorate pancellular enzyme deficiencies