PMID- 17298726 OWN - NLM STAT- MEDLINE DCOM- 20070416 LR - 20190917 IS - 1472-6483 (Print) IS - 1472-6483 (Linking) VI - 14 IP - 2 DP - 2007 Feb TI - Preimplantation diagnosis for immunodeficiencies. PG - 214-23 AB - 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. FAU - Verlinsky, Yury AU - Verlinsky Y AD - Reproductive Genetics Institute, 2825 North Halsted Street, Chicago, IL 60657, USA. FAU - Rechitsky, Svetlana AU - Rechitsky S FAU - Sharapova, Tatyana AU - Sharapova T FAU - Laziuk, Katya AU - Laziuk K FAU - Barsky, Irina AU - Barsky I FAU - Verlinsky, Oleg AU - Verlinsky O FAU - Tur-Kaspa, Ilan AU - Tur-Kaspa I FAU - Kuliev, Anver AU - Kuliev A LA - eng PT - Case Reports PT - Journal Article PL - Netherlands TA - Reprod Biomed Online JT - Reproductive biomedicine online JID - 101122473 RN - 0 (HLA Antigens) SB - IM MH - Embryo, Mammalian/*immunology MH - Female MH - HLA Antigens MH - *Histocompatibility Testing/methods MH - Humans MH - Immunologic Deficiency Syndromes/*diagnosis MH - Pregnancy MH - *Preimplantation Diagnosis EDAT- 2007/02/15 09:00 MHDA- 2007/04/17 09:00 CRDT- 2007/02/15 09:00 PHST- 2007/02/15 09:00 [pubmed] PHST- 2007/04/17 09:00 [medline] PHST- 2007/02/15 09:00 [entrez] AID - S1472-6483(10)60790-0 [pii] AID - 10.1016/s1472-6483(10)60790-0 [doi] PST - ppublish SO - Reprod Biomed Online. 2007 Feb;14(2):214-23. doi: 10.1016/s1472-6483(10)60790-0.