Primary immunodeficiencies: 2009 update

被引：328

作者：

Notarangelo, Luigi D. ^{[1
,2
]}

Fischer, Alain ^{[3
]}

Geha, Raif S. ^{[1
,2
]}

Casanova, Jean-Laurent ^{[4
]}

Chapel, Helen ^{[5
]}

Conley, Mary Ellen ^{[6
,7
]}

Cunningham-Rundles, Charlotte ^{[8
]}

Etzioni, Amos ^{[9
]}

Hammartrom, Lennart ^{[10
]}

Nonoyama, Shigeaki ^{[11
]}

Ochs, Hans D. ^{[12
]}

Puck, Jennifer ^{[13
]}

Roifman, Chaim ^{[14
]}

Seger, Reinhard ^{[15
]}

Wedgwood, Josiah ^{[16
]}

机构：

[1] Childrens Hosp, Div Immunol, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[3] Hop Necker Enfants Malad, Paris, France

[4] Rockefeller Univ, New York, NY 10021 USA

[5] Oxford Radcliffe Hosp, Dept Clin Immunol, Oxford, England

[6] Univ Tennessee, Memphis, TN USA

[7] St Jude Childrens Hosp, Memphis, TN 38105 USA

[8] Mt Sinai Sch Med, New York, NY USA

[9] Technion Israel Inst Technol, Bruce Rappaport Fac Med, Meyers Children Hosp, IL-31096 Haifa, Israel

[10] Karolinska Univ, Huddinge Hosp, Div Clin Immunol, Stockholm, Sweden

[11] Natl Def Med Coll, Dept Pediat, Tokorozawa, Saitama 359, Japan

[12] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA

[13] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA

[14] Hosp Sick Children, Toronto, ON M5G 1X8, Canada

[15] Univ Zurich, Kinderklin, Zurich, Switzerland

[16] NIAID, Bethesda, MD 20892 USA

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2009年 / 124卷 / 06期

基金：

瑞典研究理事会; 美国国家卫生研究院;

关键词：

Primary immunodeficiencies; T cells; B cells; severe combined immunodeficiency; predominantly antibody deficiencies; DNA repair defects; phagocytes; complement; immune dysregulation syndromes; innate immunity; autoinflammatory disorders;

D O I：

10.1016/j.jaci.2009.10.013

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

More than 50 years after Ogdeon Bruton's discovery of congenital agammaglobulinemia, human primary immunodeficiencies (PIDs) continue to unravel novel molecular and cellular mechanisms that govern development and function of the human immune system. This report provides the updated classification of PIDs that has been compiled by the International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies after its biannual meeting in Dublin, Ireland, in June 2009. Since the appearance of the last classification in 2007, novel forms of PID have been discovered, and additional pathophysiology mechanisms that account for PID in human beings have been unraveled. Careful analysis and prompt recognition of these disorders is essential to prompt effective forms of treatment and thus to improve survival and quality of life in patients affected with PIDs. (J Allergy Clin Immunol 2009;124:1161-78.)

引用

页码：1161 / 1178

页数：18