Hematopoietic stem cell transplantation for CD3¦Ä deficiency

详细信息    查看全文

• 作者：Nufar Marcus MD^a ; Hidetoshi Takada MD^b ; Jason Law MD^c ; Morton J. Cowan MD^c ; Juana Gil MD ; PhD^d ; Jose R. Regueiro MD ; PhD^d ; Diego Plaza Lopez de Sabando MD^e ; Eduardo Lopez-Granados MD ; PhD^e ; Jignesh Dalal MD^f ; Wilhelm Friedrich MD^g ; Hoenig Manfred MD^g ; Imelda Celine Hanson MD^h ; Eyal Grunebaum MD^a ; William T. Shearer MD ; PhD^h ; Chaim M. Roifman MD ; FRCPC^a ;   ; ^{chaim.roifman@sickkids.ca}
• 关键词：CD3¦Ä ; severe combined immunodeficiency ; bone marrow transplant ; stem cell transplant ; myeloablative conditioning ; engraftment
• 刊名：Journal of Allergy and Clinical Immunology
• 出版年：2011
• 出版时间：November 2011
• 年：2011
• 卷：128
• 期：5
• 页码：1050-1057
• 全文大小：312 K

文摘

ml version=""1.0"" encoding=""UTF-8""?>

Background

CD3¦Ä deficiency is a fatal form of severe combined immunodeficiency that can be cured by hematopoietic stem cell transplantation (HSCT). The presence of a thymus loaded with T-cell progenitors in patients with CD3¦Ä deficiency may require special considerations in choosing the regimen of conditioning and the type of HSCT.

Objectives

To study the outcome of CD3¦Ä deficiency by using various modalities of stem cell transplantation.

Methods

We analyzed data on 13 patients with CD3¦Ä deficiency who underwent HSCT in 7 centers. HSCT was performed by using different sources of donor stem cells as well as various conditioning regimens.

Results

One patient received stem cells from a matched related donor and survived after a second transplant, needing substantial conditioning in order to engraft. Only 2 of 7 other patients who received a mismatched related donor transplant survived; 2 of them had no conditioning, whereas the others received various combinations of conditioning regimens. Engraftment of T cells in the survivors appears incomplete. Three other patients who received stem cells from a matched unrelated donor survived and enjoyed full immune reconstitution. Two patients received unrelated cord blood without conditioning. One of them has had a partial but stable engraftment, whereas the other engrafted well but is only 12 months after HSCT. We also report here for the first time that patients with CD3¦Ä deficiency can present with typical features of Omenn syndrome.

Conclusions

HSCT is a successful treatment for patients with CD3¦Ä deficiency. The small number of patients in this report prevents definitive statements on the importance of survival factors, but several are suggested: (1) HLA-matched donor transplants are associated with superior reconstitution and survival than are mismatched donor transplants; (2) substantial conditioning appears necessary; and (3) early diagnosis and absence of opportunistic infections may affect outcome.