Newborn screening for primary immunodeficiencies: beyond SCID and XLA

被引:32
作者
Borte, Stephan [1 ,2 ,3 ]
Wang, Ning [1 ]
Oskarsdottir, Solveig [4 ]
von Dobeln, Ulrika [5 ]
Hammarstrom, Lennart [1 ]
机构
[1] Karolinska Univ, Huddinge Hosp, Karolinska Inst, Div Clin Immunol & Transfus Med,Dept Lab Med, SE-14186 Stockholm, Sweden
[2] Univ Leipzig, Translat Ctr Regenerat Med TRM, Leipzig, Germany
[3] Hosp St Georg gGmbH Leipzig, Immuno Deficiency Ctr Leipzig IDCL, Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Leipzig, Germany
[4] Sahlgrens Univ Hosp, Queen Silvias Childrens Hosp, Gothenburg, Sweden
[5] Karolinska Univ, Huddinge Hosp, Karolinska Inst, Div Metab Dis,Dept Lab Med, SE-14186 Stockholm, Sweden
来源
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II | 2011年 / 1246卷
关键词
TREC; KREC; SCID; XLA; ataxia telangiectasia; DiGeorge syndrome; NIJMEGEN BREAKAGE SYNDROME; SHWACHMAN-DIAMOND-SYNDROME; T-CELL IMMUNODEFICIENCY; EARLY B-CELL; ATAXIA-TELANGIECTASIA; DYSKERATOSIS-CONGENITA; COMPLEMENT DEFICIENCY; CLINICAL PRESENTATION; AUTOSOMAL-DOMINANT; PROPIONIC ACIDEMIA;
D O I
10.1111/j.1749-6632.2011.06350.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Primary immunodeficiencies (PID) encompass more than 250 disease entities, including phagocytic disorders, complement deficiencies, T cell defects, and antibody deficiencies. While differing in clinical severity, early diagnosis and treatment is of considerable importance for all forms of PID to prevent organ damage and life-threatening infections. During the past few years, neonatal screening assays have been developed to detect diseases hallmarked by the absence of T or B lymphocytes, classically seen in severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). As described in this review, a reduction or lack of T and B cells in newborns is also frequently found in several other forms of PID, requiring supplemental investigation and involving the development of additional technical platforms in order to help classify abnormal screening results.
引用
收藏
页码:118 / 130
页数:13
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