Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18

被引：13

作者：

Cabanillas, Diana ^{[1
]}

Regairaz, Lorena ^{[1
]}

Deswarte, Caroline ^{[2
,3
]}

Garcia, Mariel ^{[4
]}

Richard, Marie-Edith ^{[2
,3
]}

Casanova, Jean-Laurent ^{[2
,3
,5
,6
,7
]}

Bustamante, Jacinta ^{[2
,3
,5
,8
]}

Perez, Laura ^{[9
]}

机构：

[1] Childrens Hosp Super Sor Maria Ludovica, Immunol Unit, La Plata, Buenos Aires, Argentina

[2] INSERM, Lab Human Genet Infect Dis, Necker Branch, U1163, Paris, France

[3] Paris Descartes Univ, Imagine Inst, Paris, France

[4] Childrens Hosp Super Sor Maria Ludovica, Infect Dis Unit, La Plata, Buenos Aires, Argentina

[5] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA

[6] Howard Hughes Med Inst, New York, NY USA

[7] Necker Hosp Sick Children, Pediat Hematol Immunol Unit, Paris, France

[8] Necker Hosp Sick Children, AP HP, Ctr Study Primary Immunodeficiencies, Paris, France

[9] Juan Pedro Garrahan Natl Hosp Pediat, Dept Immunol & Rheumatol, Combate de los Pozos 1881, RA-1245 Buenos Aires, DF, Argentina

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2016年 / 36卷 / 07期

关键词：

Leukocyte adhesion deficiency; New mutation; Residual integrin expression; INTEGRINS; MUTATION; DOMAIN;

D O I：

10.1007/s10875-016-0322-1

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：627 / 630

页数：4

共 50 条

[1] Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18
Diana Cabanillas
Lorena Regairaz
Caroline Deswarte
Mariel García
Marie-Edith Richard
Jean-Laurent Casanova
Jacinta Bustamante
Laura Perez
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[2] THE CD11/CD18 LEUKOCYTE GLYCOPROTEIN DEFICIENCY
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[3] Discordance between clinical severity phenotype and CD11/CD18 expression in leukocyte adhesion deficiency type I (LAD-I)
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[5] STRUCTURE AND FUNCTION OF THE LEUKOCYTE ADHESION MOLECULES CD11 CD18
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[9] GRANULOCYTE ACCUMULATION IN POSTISCHEMIC INTESTINE - ROLE OF LEUKOCYTE ADHESION GLYCOPROTEIN CD11/CD18
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