Hematopoietic stem cell transplantation for CD3δ deficiency

被引：16

作者：

Marcus, Nufar ^{[1
,2
]}

Takada, Hidetoshi ^{[3
]}

Law, Jason ^{[4
]}

Cowan, Morton J. ^{[4
]}

Gil, Juana ^{[5
]}

Regueiro, Jose R. ^{[5
]}

Lopez de Sabando, Diego Plaza ^{[6
]}

Lopez-Granados, Eduardo ^{[6
]}

Dalal, Jignesh ^{[7
]}

Friedrich, Wilhelm ^{[8
]}

Manfred, Hoenig ^{[8
]}

Hanson, Imelda Celine ^{[9
,10
]}

Grunebaum, Eyal ^{[1
,2
]}

Shearer, William T. ^{[9
,10
]}

Roifman, Chaim M. ^{[1
,2
]}

机构：

[1] Hosp Sick Children, Div Immunol & Allergy, Dept Pediat, Canadian Ctr Primary Immunodeficiency, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Toronto, ON, Canada

[3] Kyushu Univ, Dept Pediat, Grad Sch Med Sci, Fukuoka 812, Japan

[4] UCSF Childrens Hosp, Blood & Marrow Transplant Div, San Francisco, CA USA

[5] Univ Complutense, Fac Med, Hosp Gregorio Maranon, E-28040 Madrid, Spain

[6] Autonoma Univ Sch Med, Hosp La Paz, IdiPAZ, Madrid, Spain

[7] Childrens Mercy Hosp, Dept Hematol Oncol, Kansas City, KS USA

[8] Univ Childrens Hosp Ulm, Ulm, Germany

[9] Baylor Coll Med, Dept Pediat, Sect Allergy & Immunol, Houston, TX 77030 USA

[10] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2011年 / 128卷 / 05期

基金：

美国国家卫生研究院;

关键词：

CD3; delta; severe combined immunodeficiency; bone marrow transplant; stem cell transplant; myeloablative conditioning; engraftment; SEVERE COMBINED IMMUNODEFICIENCY; BONE-MARROW-TRANSPLANTATION; IMMUNE RECONSTITUTION; SINGLE-CENTER; EXPERIENCE; DISEASES; CD3;

D O I：

10.1016/j.jaci.2011.05.031

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Background: CD3 delta 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 delta deficiency may require special considerations in choosing the regimen of conditioning and the type of HSCT. Objectives: To study the outcome of CD3 delta deficiency by using various modalities of stem cell transplantation. Methods: We analyzed data on 13 patients with CD3 delta 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 delta deficiency can present with typical features of Omenn syndrome. Conclusions: HSCT is a successful treatment for patients with CD3 delta 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. (J Allergy Clin Immunol 2011;128:1050-7.)

引用

页码：1050 / 1057

页数：8

共 18 条

[1] Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies:: report of the European experience 1968-99 [J].