Matched unrelated donor bone marrow transplantation in leukocyte adhesion deficiency.

The severe phenotype of leukocyte adhesion deficiency is a rare, congenital disorder of leukocyte function that is usually fatal in the first few years of life. Allogeneic hematopoietic stem cell transplantation currently offers the only curative approach for this disease. We describe the first successful matched unrelated donor bone marrow transplant in an infant with leukocyte adhesion deficiency.

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic, histologically benign splenomegaly and generalized lymphadenopathy, hypergammaglobulinemia, and autoantibody formation. ALPS has been attributed to defective programmed cell death of lymphocytes, most often arising as a result of mutations in the gene encoding the lymphocyte apoptosis receptor Fas/APO-l/CD95. We identified a novel mutation in the intracellular apoptosis signaling domain of Fas in 11 members of a family, individual members of which have been monitored for up to 25 years, with 1 or more features of ALPS.