Preimplantation diagnosis for immunodeficiencies
| Autor: | Oleg Verlinsky, Anver Kuliev, I Barsky, K Laziuk, T Sharapova, Svetlana Rechitsky, Ilan Tur-Kaspa, Yury Verlinsky |
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| Rok vydání: | 2007 |
| Předmět: |
Histocompatibility Testing
Immunologic Deficiency Syndromes Obstetrics and Gynecology Human leukocyte antigen Biology medicine.disease Preimplantation genetic diagnosis Embryo Mammalian Omenn syndrome Transplantation Immune system Reproductive Medicine HLA Antigens Pregnancy Immunology Ataxia-telangiectasia medicine Humans Female Hypohidrotic ectodermal dysplasia Stem cell Preimplantation Diagnosis Developmental Biology |
| Zdroj: | Reproductive biomedicine online. 14(2) |
| ISSN: | 1472-6483 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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