Discovery of single-gene inborn errors of immunity by next generation sequencing

被引:66
作者
Conley, Mary Ellen [1 ]
Casanova, Jean-Laurent [1 ,2 ,3 ,4 ,5 ]
机构
[1] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA
[2] Howard Hughes Med Inst, Chevy Chase, MD USA
[3] Paris Descartes Univ, Necker Branch, Lab Human Genet Infect Dis, Paris, France
[4] Necker Hosp Sick Children, INSERM, Imagine Inst, Paris, France
[5] Necker Hosp Sick Children, Pediat Hematol Immunol Unit, Paris, France
关键词
LOSS-OF-FUNCTION; COMBINED IMMUNODEFICIENCY; AUTOSOMAL-DOMINANT; RAG MUTATIONS; LIVER DEGENERATION; P85-ALPHA SUBUNIT; CELL DEFICIENCY; STAT1; MUTATIONS; 11; CARD11; DISEASE;
D O I
10.1016/j.coi.2014.05.004
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Many patients with clinical and laboratory evidence of primary immunodeficiency do not have a gene specific diagnosis. The use of next generation sequencing, particularly whole exome sequencing, has given us an extraordinarily powerful tool to identify the disease-causing genes in some of these patients. At least 34 new gene defects have been identified in the last 4 years. These findings document the striking heterogeneity of the phenotype in patients with mutations in the same gene. In some cases this can be attributed to loss-of-function mutations in some patients, but gain-of-function mutations in others. In addition, the surprisingly high frequency of autosomal dominant immunodeficiencies with variable penetrance, and de novo mutations in disorders with a severe phenotype has been unmasked.
引用
收藏
页码:17 / 23
页数:7
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