DOCK8 Large Genomic Deletions and Abdominal Vasculitis in Children with Autosomal Recessive hyper-IgE Syndrome

被引：0

作者：

Lugo Reyes, Saul Oswaldo ^{[1
]}

Okada, Satoshi ^{[2
]}

Antonio Yamazaki-Nakashimada, Marco ^{[3
]}

Prando, Carolina ^{[2
]}

Boisson-Dupuis, Stephanie ^{[2
]}

Casanova, Jean-Laurent ^{[2
]}

Picard, Capucine ^{[4
]}

机构：

[1] Natl Inst Pediat, Immunodeficiencies Res Unit, Mexico City, DF, Mexico

[2] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA

[3] Natl Inst Pediat, Dept Clin Immunol, Mexico City, DF, Mexico

[4] Univ Paris 05, Hop Necker Enfants Malad, Paris, France

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2012年 / 32卷 / 02期

关键词：

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：379 / 379

页数：1

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[41] Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome [J].

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