Preimplantation diagnosis for immunodeficiencies

Yury Verlinsky, Svetlana Rechitsky, Tatyana Sharapova, Katya Laziuk, Irina Barsky, Oleg Verlinsky, Ilan Tur-Kaspa, Anver Kuliev

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


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.

Original languageEnglish
Article number2581
Pages (from-to)214-223
Number of pages10
JournalReproductive BioMedicine Online
Issue number2
StatePublished - 1 Jan 2007
Externally publishedYes


  • Congenital immunodeficiencies
  • HLA-identical stem cell transplantation
  • Preimplantation HLA typing
  • Preimplantation genetic diagnosis

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology
  • Developmental Biology


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