Primary immunodeficiencies in India: a perspective

被引:34
作者
Gupta, Sudhir [1 ]
Madkaikar, Manisha [2 ]
Singh, Surjit [3 ]
Sehgal, Shobha [3 ]
机构
[1] Univ Calif Irvine, Div Basic & Clin Immunol, Irvine, CA 92697 USA
[2] Inst Immunohematol, Bombay, Maharashtra, India
[3] Postgrad Inst Med Educ & Res, Chandigarh 160012, India
来源
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY III | 2012年 / 1250卷
关键词
SCID; perforin/syntaxin deficiency; antibody deficiency; phagocytic cell defects; ATAXIA-TELANGIECTASIA;
D O I
10.1111/j.1749-6632.2011.06353.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Although primary immunodeficiency diseases (PIDs) were first reported in India in the 1970s, those diagnoses were based predominantly on clinical presentations-very limited immunological analyses were performed. Therefore, the validity of many early reports of PIDs may be questionable. However, in the last 10-15 years, diagnoses of PIDs have been based on flow cytometric analysis and, in a few cases, by mutational analysis. In India, PIDs in adults are markedly underreported. We present data from two major centers where diagnosis of PID has been focused primarily in children. We highlight some of the limitations and challenges in the diagnosis and therapy of PID, and more recent efforts to establish PID Centers of Excellence and a national PID registry in India.
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收藏
页码:73 / 79
页数:7
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