title: Preimplantation diagnosis for immunodeficiencies.
abstract: Preimplantation genetic diagnosis (PGD) has become an established procedure for the detection of single gene disorders, and has recently been performed together with human leukocyte antigen (HLA) typing for couples with children affected by genetic disorders that require HLA-identical stem cell transplantation therapy. For these couples, PGD can ensure the birth of an unaffected child, and because HLA-matched stem cell transplantation improves or completely restores the immune system, this child may also serve as a potential stem cell donor for affected siblings. This paper presents the first cumulative experience (18 cycles) of PGD for detection of the following immunodeficiencies: Wiscott-Aldrich syndrome, X-linked hyper-IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID), ataxia telangiectasia and Omenn syndrome, resulting in the transfer of unaffected embryos in 13 cycles and the birth of seven unaffected children, with one healthy pregnancy ongoing. HLA-identical stem cells from some of these children have been used for transplantation therapy, resulting in the restoration of normal function in siblings with HIGM and HED-ID.
authors.affiliation: Reproductive Genetics Institute, 2825 North Halsted Street, Chicago, IL 60657, USA.
authors.forename: Yury
authors.initials: Y
authors.lastname: Verlinsky
authors.forename: Svetlana
authors.initials: S
authors.lastname: Rechitsky
authors.forename: Tatyana
authors.initials: T
authors.lastname: Sharapova
authors.forename: Katya
authors.initials: K
authors.lastname: Laziuk
authors.forename: Irina
authors.initials: I
authors.lastname: Barsky
authors.forename: Oleg
authors.initials: O
authors.lastname: Verlinsky
authors.forename: Ilan
authors.initials: I
authors.lastname: Tur-Kaspa
authors.forename: Anver
authors.initials: A
authors.lastname: Kuliev
mesh_terms: D004622:Embryo, Mammalian / Q000276:immunology*; D005260:Female; D006680:HLA Antigens; D006650:Histocompatibility Testing / Q000379:methods; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D011247:Pregnancy; D019836:Preimplantation Diagnosis
chemical_list: D006680:HLA Antigens