Interleukin-7 receptor α (IL-7Rα) deficiency:: cellular and molecular bases.: Analysis of clinical, immunological, and molecular features in 16 novel patients

被引：137

作者：

Giliani, S ^{[1
]}

Mori, L

Basile, GD

Le Deist, F

Rodriguez-Perez, C

Forino, C

Mazzolari, E

Dupuis, S

Elhasid, R

Kessel, A

Galambrun, C

Gil, J

Fischer, A

Etzioni, A

Notarangelo, LD

机构：

[1] Univ Brescia, Spedali Civili, Dept Pediat, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, Italy

[2] Hop Necker Enfants Malad, INSERM, U429, Paris, France

[3] Hop Debrousse, Unite Immunol & Hematol Pediat, Lyon, France

[4] Technion Israel Inst Technol, B Rappaport Sch Med, Meyer Children Hosp, Haifa, Israel

[5] Hosp Gen Univ Gregorio Maranon, Div Immunol, Madrid, Spain

来源：

IMMUNOLOGICAL REVIEWS | 2005年 / 203卷

关键词：

D O I：

10.1111/j.0105-2896.2005.00234.x

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Analysis of gene-targeted mice and patients with severe combined immunodeficiency due to mutations of the alpha chain of the interleukin-7 receptor (IL-7Ralpha) has shown important differences between mice and humans in the role played by IL-7 in lymphoid development. More recently, it has been shown that IL-7Ralpha is also shared by the receptor for another cytokine, thymic stromal lymphopoietin (TSLP). In this review, we discuss recent advances in IL-7- and TSLP-mediated signaling. We also report on the clinical and immunological features of 16 novel patients with IL-7Ralpha deficiency and discuss the results of hematopoietic stem cell transplantation.

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页码：110 / 126

页数：17

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