Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

被引：476

作者：

Picard, Capucine ^{[1
,2
]}

Al-Herz, Waleed ^{[3
,4
]}

Bousfiha, Aziz ^{[5
]}

Casanova, Jean-Laurent ^{[1
,6
,7
,8
,9
]}

Chatila, Talal ^{[10
]}

Conley, Mary Ellen ^{[6
]}

Cunningham-Rundles, Charlotte ^{[11
]}

Etzioni, Amos ^{[12
]}

Holland, Steven M. ^{[13
]}

Klein, Christoph ^{[14
]}

Nonoyama, Shigeaki ^{[15
]}

Ochs, Hans D. ^{[16
,17
]}

Oksenhendler, Eric ^{[18
,19
]}

Puck, Jennifer M. ^{[20
,21
]}

Sullivan, Kathleen E. ^{[22
]}

Tang, Mimi L. K. ^{[23
,24
,25
]}

Franco, Jose Luis ^{[26
]}

Gaspar, H. Bobby ^{[27
]}

机构：

[1] Necker Hosp Sick Children, Lab Human Genet Infect Dis, Necker Branch, INSERM UMR1163, Paris, France

[2] Hop Necker Enfants Malad, AP HP, Ctr Etude Deficits Immunitaires, Paris, France

[3] Kuwait Univ, Fac Med, Dept Pediat, Kuwait, Kuwait

[4] Al Sabah Hosp, Allergy & Clin Immunol Unit, Dept Pediat, Kuwait, Kuwait

[5] King Hassan II Univ, Ibn Rochd Med Sch, Clin Immunol Unit, Casablanca Childrens Hosp, Casablanca, Morocco

[6] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA

[7] Howard Hughes Med Inst, New York, NY USA

[8] Univ Paris 05, Imagine Inst, Paris, France

[9] Necker Hosp Sick Children, Pediat Hematol & Immunol Unit, Paris, France

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

[11] Mt Sinai Sch Med, Dept Med & Pediat, New York, NY USA

[12] Technion Israel Inst Technol, Meyer Childrens Hospital, Haifa, Israel

[13] NIAID, Lab Clin Infect Dis, Bethesda, MD 20892 USA

[14] Univ Munich, Dr von Hauner Childrens Hosp, Munich, Germany

[15] Natl Def Med Coll, Dept Pediat, Saitama, Japan

[16] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

[17] Seattle Childrens Res Inst, Seattle, WA USA

[18] Hop St Louis, AP HP, Dept Clin Immunol, Paris, France

[19] Univ Paris Diderot, Sorbonne Paris Cite, Paris, France

[20] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

[21] UCSF Benioff Childrens Hosp, San Francisco, CA USA

[22] Childrens Hosp Philadelphia, Dept Pediat, Div Allergy Immunol, Philadelphia, PA 19104 USA

[23] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[24] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[25] Royal Childrens Hosp, Dept Allergy & Immunol, Melbourne, Vic, Australia

[26] Univ Antioquia, Grp Primary Immunodeficiencies, Medellin, Colombia

[27] UCL Inst Child Hlth, London WC1N 1EH, England

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2015年 / 35卷 / 08期

关键词：

Primary immunodeficiencies; classification; genetic defects;

D O I：

10.1007/s10875-015-0201-1

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous version, 34 new gene defects are reported in this updated version. For each disorder, the key clinical and laboratory features are provided. In this new version we continue to see the increasing overlap between immunodeficiency, as manifested by infection and/or malignancy, and immune dysregulation, as manifested by auto-inflammation, auto-immunity, and/or allergy. There is also an increased number of genetic defects that lead to susceptibility to specific organisms which reflects the finely tuned nature of immune defense systems. This classification is the most up to date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.

引用

页码：696 / 726

页数：31