Unrelated hematopoietic stem cell transplantation for Cernunnos-XLF deficiency

被引：24

作者：

Faraci, Maura ^{[1
,2
]}

Lanino, Edoardo ^{[1
,2
]}

Micalizzi, Concetta ^{[1
,2
]}

Morreale, Giuseppe ^{[1
,2
]}

Di Martino, Daniela ^{[1
,2
]}

Banov, Laura ^{[1
,2
]}

Comoli, Patrizia ^{[3
]}

Locatelli, Franco ^{[3
]}

Soresina, Annarosa ^{[4
,5
]}

Plebani, Alessandro ^{[4
,5
]}

机构：

[1] G Gaslini Children Res Inst, Dept Hematol Oncol, I-16148 Genoa, Italy

[2] G Gaslini Children Res Inst, Hematopoiet Stem Cell Unit, I-16148 Genoa, Italy

[3] Univ Pavia, Policlin San Matteo, Fdn IRCCS, Lab Transplantat Immunol & Pediat Hematol Oncol, I-27100 Pavia, Italy

[4] Univ Brescia, Dept Pediat, Brescia, Italy

[5] Univ Brescia, Inst Mol Med A Nocivelli, Brescia, Italy

来源：

PEDIATRIC TRANSPLANTATION | 2009年 / 13卷 / 06期

关键词：

Cernunnos syndrome; hematopoietic stem cell transplantation; Epstein-Barr virus-post-transplantation lymphoproliferative disease; congenital immunodeficiency; BONE-MARROW-TRANSPLANTATION; STRAND BREAK REPAIR; LYMPHOPROLIFERATIVE DISEASE; CONDITIONING REGIMEN; IMMUNODEFICIENCY; CHILDREN;

D O I：

10.1111/j.1399-3046.2008.01028.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Cernunnos-XLF deficiency is a rare CI characterized by a defective DNA DSB repair mechanism. Its clinical manifestations are growth retardation, dysmorphic features, malformations, and severe B- and T-cell lymphopenia. BM failure may complicate the clinical picture. To date, there have been no described patients with CSy undergoing allogeneic HSCT. We report a case of CSy treated successfully with unrelated allogeneic HSCT after a reduced-intensity conditioning regimen. Two yr after HSCT, the patient maintains full donor engraftment, normal hematopoiesis, and progressively improving immune competence, thus suggesting that HSCT may be the treatment of choice for CSy.

引用

页码：785 / 789

页数：5

共 14 条

[11]

Porta F, 1998, BONE MARROW TRANSPL, V21, pS21

[12] Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen [J].