Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family

被引：6

作者：

Sharapova, Svetlana O. ^{[1
]}

Haapaniemi, Emma ^{[2
,3
]}

Sakovich, Inga S. ^{[1
]}

Rojas, Jessica ^{[4
]}

Gamez-Diaz, Laura ^{[4
]}

Mareika, Yuliya E. ^{[1
]}

Guryanova, Irina E. ^{[1
]}

Migas, Alexandr A. ^{[1
]}

Mikhaleuskaya, Taisiya M. ^{[1
]}

Grimbacher, Bodo ^{[4
]}

Aleinikova, Olga V. ^{[1
]}

机构：

[1] Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Res Dept, Immunol Lab, Borovliani 223053, Minsk Region, BELARUS

[2] Karolinska Inst, Dept Hematol & Regenerat Med, Huddinge, Sweden

[3] Univ Helsinki, Genome Scale Biol Program, Helsinki, Finland

[4] Univ Freiburg, Ctr Chron Immunodeficiency, Med Ctr, Freiburg, Germany

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2018年 / 38卷 / 04期

关键词：

LRBA homozygous mutation; multiple autoimmunity; germline mosaicism; Slavic family; STEM-CELL TRANSPLANTATION; IMMUNE DYSREGULATION; GONADAL MOSAICISM; DEFICIENCY; AUTOIMMUNITY; DISEASE; PATIENT;

D O I：

10.1007/s10875-018-0515-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：

引用

页码：471 / 474

页数：4

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