Remission of Crohn's disease after cord blood transplantation for leukocyte adhesion deficiency type 1

摘要

Leukocyte adhesion deficiency type-1 (LAD-1) is a rare autosomal recessive inherited immunodeficiency disorder caused by mutation in the ITGB2 gene (21q22.3), encoding the beta2-integrin CD18. beta2-integrin glycoprotein complex is required for adhesion dependent functions, such as aggregation, chemotaxis, phagocytosis, cell mediated killing and adherence to vascular endothelium. Patients with LAD-1 develop recurrent bacterial infections beginning in early childhood. In the absence of effective gene therapy, allogeneic hematopoietic SCT is the only therapy, which has been shown to be curative in patients with a severe phenotype. Hematopoietic stem cell transplant (HSCT) for LAD-1 has been reported mostly in children but some adults have been treated using this modality.1"11 European experience with HSCT for LAD-1 has been described by Qasim et al.2 who also described use of cord blood transplant (CBT) for LAD-1 in pediatric patients. Reduced intensity conditioning was found to be safe and effective. Mixed donor chimerism achieved was sufficient to prevent significant infections. The therapy, however, is limited due to shortage of HLA matched adult donors. We successfully treated an adult with LAD-1 using non-myeloablative CBT. CBT also led to remission of concurrent Crohn's disease.