T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome.

Abstract

Complete DiGeorge syndrome (cDGS) is a congenital disorder characterized by typical facies, thymic aplasia, susceptibility to infections, hypoparathyroidism and conotruncal cardiac defect. Fetal thymus or post-natal thymus tissue transplantations and human leucocyte antigen (HLA)-genoidentical bone marrow transplantations were followed in a few cases by immune reconstitution. More recently, a peripheral blood mononuclear cell transplantation (PBMCT) was performed with an HLA-genoidentical donor and followed by a partial T-cell engraftment and immune reconstitution. We report a boy with cDGS, without cardiac defect, who suffered recurrent severe infections. At the age of 4 years, he underwent PBMCT from his HLA-genoidentical sister. He received no conditioning regimen, but graft-versus-host disease (GVHD) prophylaxis was with oral cyclosporin A and mycophenolate mofetil. Toxicity was mild, with grade I acute GVHD. The patient is currently 2.5 years post-PBMCT with excellent clinical performances. Mixed chimaerism can only be observed on the T-cell population (50% donor T cells). T-lymphocyte count fluctuated (CD3 more than 400 x 10(6)/l at d 84 and CD4 more than 200 x 10(6)/l at d 46). Exclusive memory phenotype T cells and absence of new thymic emigrants suggest expansion of infused T cells. T-cell mitogen and tetanus antigen responses normalized a few months after transplantation. After immunizations, specific antibodies were produced. PBMCT from an HLA identical sibling could be an efficient treatment of immune deficiency in cDGS.

• Authors: Danièle Bensoussan, Françoise Le Deist, Véronique Latger-Cannard, Marie José Grégoire, Odile Avinens, Pierre Feugier, Violaine Bourdon, Christine André-Botté, Claudine Schmitt, Philippe Jonveaux, Jean François Eliaou, Jean François Stoltz, Pierre Bordigoni
• Journal: British journal of haematology (Br J Haematol) Vol. 117 Issue 4 Pg. 899-906 (Jun 2002) ISSN: 0007-1048 [Print] England
• PMID: 12060129 (Publication Type: Case Reports, Journal Article)

Topics

• Acute Disease
• CD4-Positive T-Lymphocytes (immunology)
• CD8-Positive T-Lymphocytes (immunology)
• DiGeorge Syndrome (immunology, surgery)
• Graft vs Host Disease (immunology)
• Humans
• Immunization
• Infant, Newborn
• Leukocytes, Mononuclear (transplantation)
• Lymphocyte Count
• Male
• Polymorphism, Genetic
• Postoperative Period
• T-Lymphocytes (immunology)
• Transplantation Chimera
• Transplantation, Isogeneic