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
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
收藏
页码:627 / 630
页数:4
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