The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

被引：352

作者：

Bousfiha, Aziz ^{[1
]}

Jeddane, Leila ^{[1
,2
]}

Picard, Capucine ^{[3
,4
]}

Ailal, Fatima ^{[1
]}

Gaspar, H. Bobby ^{[5
]}

Al-Herz, Waleed ^{[6
]}

Chatila, Talal ^{[7
]}

Crow, Yanick J. ^{[8
,9
]}

Cunningham-Rundles, Charlotte ^{[10
,11
]}

Etzioni, Amos ^{[12
]}

Luis Franco, Jose ^{[13
]}

Holland, Steven M. ^{[14
]}

Klein, Christoph ^{[15
]}

Morio, Tomohiro ^{[16
]}

Ochs, Hans D. ^{[17
,18
]}

Oksenhendler, Eric ^{[19
]}

Puck, Jennifer ^{[20
,21
]}

Tang, Mimi L. K. ^{[22
,23
,24
]}

Tangye, Stuart G. ^{[25
,26
]}

Torgerson, Troy R. ^{[17
,18
]}

Casanova, Jean-Laurent ^{[27
,28
,29
,30
]}

Sullivan, Kathleen E. ^{[31
]}

机构：

[1] King Hassan II Univ, Fac Med & Pharm, Clin Immunol Lab, Lab Clin Immunol Inflammat & Allergy LICIA, Casablanca, Morocco

[2] Mohammed VI Univ Hlth Sci UM6SS, Lab Natl Reference, Casablanca, Morocco

[3] Necker Hosp Sick Children, APHP, Ctr Study Immunodeficiencies, Paris, France

[4] Paris Descartes Univ, Imagine Inst, Necker Hosp Sick Children,INSERM, Lab Lymphocyte Activat & Susceptibil EBV,UMR1163, Paris, France

[5] UCL, Great Ormond St Inst Child Hlth, London, England

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

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

[8] Paris Descartes Univ, Inst Imagine, Necker Branch,Sorbonne Paris Cite, Lab Neuroinflammat & Neurogenet,INSERM,UMR1163, Paris, France

[9] Univ Manchester, Manchester Acad Hlth Sci Ctr, Fac Biol Med & Hlth, Div Evolut & Genom Sci,Sch Biol Sci, Manchester, Lancs, England

[10] Mt Sinai Sch Med, Dept Med, New York, NY USA

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

[12] Technion, Ruths Childrens Hosp, Haifa, Israel

[13] Univ Antioquia UdeA, Fac Med, Grp Inmunodeficiencias Primarias, Medellin, Colombia

[14] NIAID, Lab Clin Infect Dis, 9000 Rockville Pike, Bethesda, MD 20892 USA

[15] Ludwig Maximilians Univ Munchen, Dr von Hauner Childrens Hosp, Munich, Germany

[16] Tokyo Med & Dent Univ TMDU, Dept Pediat & Dev Biol, Tokyo, Japan

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

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

[19] Univ Paris Diderot, Hop St Louis, AP HP, Dept Clin Immunol,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] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

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

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

[25] Garvan Inst Med Res, Div Immunol, Darlinghurst, NSW, Australia

[26] Univ NSW, St Vincents Clin Sch, Sydney, NSW, Australia

[27] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA

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

[29] Univ Paris 05, Imagine Inst, Necker Hosp Sick Children,Necker Branch, Lab Human Genet Infect Dis,INSERM,UMR1163, Paris, France

[30] Necker Hosp Sick Children, APHP, Pediat Hematol Immunol Unit, Paris, France

[31] Univ Penn, Dept Pediat, Childrens Hosp Philadelphia, Div Allergy Immunol,Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2018年 / 38卷 / 01期

关键词：

Primary immunodeficiencies; Classification; Phenotypic; IUIS; Inborn errors of immunity; DISEASES;

D O I：

10.1007/s10875-017-0465-8

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

071005 [微生物学]; 100108 [医学免疫学];

摘要：

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

引用

页码：129 / 143

页数：15

共 5 条

[1]

A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside [J].

Aziz Bousfiha, Ahmed ;

Jeddane, Leila ;

Ailal, Fatima ;

Al Herz, Waleed ;

Conley, Mary Ellen ;

Cunningham-Rundles, Charlotte ;

Etzioni, Amos ;

Fischer, Alain ;

Luis Franco, Jose ;

Geha, Raif S. ;

Hammarstrom, Lennart ;

Nonoyama, Shigeaki ;

Ochs, Hans D. ;

Roifman, Chaim M. ;

Seger, Reinhard ;

Tang, Mimi L. K. ;

Puck, Jennifer M. ;

Chapel, Helen ;

Notarangelo, Luigi D. ;

Casanova, Jean-Laurent .

JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (06) :1078-1087

[2]

Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought [J].

Bousfiha, Ahmed Aziz ;

Jeddane, Leila ;

Ailal, Fatima ;

Benhsaien, Ibtihal ;

Mahlaoui, Nizar ;

Casanova, Jean-Laurent ;

Abel, Laurent .

JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (01) :1-7

[3]

Primary Immunodeficiency Classification on Smartphone [J].

Jeddane, Leila ;

Ouair, Hind ;

Benhsaien, Ibtihal ;

El Bakkouri, Jalila ;

Aziz Bousfiha, Ahmed .

JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (01) :1-2

[4]

Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001-2007 [J].

Kobrynski, Lisa ;

Powell, Rachel Waltenburg ;

Bowen, Scott .

JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (08) :954-961

[5]

Picard C, 2017, J CLIN IMMU IN PRESS

← 1 →