Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

被引：338

作者：

Al-Herz, Waleed ^{[1
,2
]}

Bousfiha, Aziz ^{[3
]}

Casanova, Jean-Laurent ^{[4
,5
]}

Chatila, Talal ^{[6
]}

Conley, Mary Ellen ^{[4
]}

Cunningham-Rundles, Charlotte ^{[7
]}

Etzioni, Amos ^{[8
]}

Franco, Jose Luis ^{[9
]}

Gaspar, H. Bobby ^{[10
]}

Holland, Steven M. ^{[11
]}

Klein, Christoph ^{[12
]}

Nonoyama, Shigeaki ^{[13
]}

Ochs, Hans D. ^{[14
]}

Oksenhendler, Erik ^{[15
,16
]}

Picard, Capucine ^{[5
,17
]}

Puck, Jennifer M. ^{[18
]}

Sullivan, Kate ^{[19
]}

Tang, Mimi L. K. ^{[20
,21
,22
]}

机构：

[1] Kuwait Univ, Dept Pediat, Kuwait, Kuwait

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

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

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

[5] Univ Paris 05, Lab Human Genet Infect Dis, Necker Med Sch, Necker Branch,INSERM,Imagine Inst,UMR1163, Paris, France

[6] Childrens Hosp Boston, Div Immunol, Boston, MA USA

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

[8] Technion Israel Inst Technol, Meyer Childrens Hosp, Haifa, Israel

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

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

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

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

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

[14] Univ Washington, Dept Pediat, Seattle Childrens Res Inst, Seattle, WA 98195 USA

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

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

[17] Hop Necker Enfants Malad, AP HP, CEDI, Paris, France

[18] Univ Calif San Francisco, Dept Pediat, UCSF Benioff Childrens Hosp, San Francisco, CA USA

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

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

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

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

来源：

FRONTIERS IN IMMUNOLOGY | 2014年 / 5卷

关键词：

primary immunodeficiencies; IUIS; classification; genetic defects; genotype;

D O I：

10.3389/fimmu.2014.00162

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 (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.

引用

页数：33