Definition of primary immunodeficiency in 2011: a "trialogue" among friends

被引：14

作者：

Conley, Mary Ellen ^{[1
]}

Notarangelo, Luigi D. ^{[2
,3
]}

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

机构：

[1] Univ Tennessee, Coll Med, St Jude Childrens Res Hosp, Memphis, TN 38105 USA

[2] Harvard Univ, Sch Med, Childrens Hosp Boston, Div Immunol, Boston, MA USA

[3] Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res, Boston, MA USA

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

[5] Univ Paris 05, INSERM, U980, Lab Human Genet Infect Dis,Necker Branch, Paris, France

来源：

YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I | 2011年 / 1238卷

关键词：

inborn errors of innate immunity; autoinflammatory disorders; population genetics; INBORN-ERRORS; MUTATIONS; IMMUNITY;

D O I：

10.1111/j.1749-6632.2011.06212.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There is no clear consensus about the definition of the term primary immunodeficiency in 2011. Although there is general agreement that defects in both adaptive and innate immunity should be included, issues related to the frequency of primary immunodeficiencies, the modes of inheritance, the other types of cells involved, and the required clinical phenotype are more contentious. Three friends with an interest in both the clinical and scientific aspects of primary immunodeficiency carried out a discussion or trialogue to address some of these issues.

引用

页码：1 / 6

页数：6

共 26 条

[1] Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?
Alcais, Alexandre
Quintana-Murci, Lluis
Thaler, David S.
Schurr, Erwin
Abel, Laurent
Casanova, Jean-Laurent
[J]. YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS, 2010, 1214 : 18 - 33
[2] [Anonymous], 1957, Ann Intern Med, V47, P533
[3] [Anonymous], 1961, HOL BIBL NEW AM CATH
[4] Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century
Arkwright, Peter D.
Gennery, Andrew R.
[J]. YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY I, 2011, 1238 : 7 - 14
[5] From evolutionary genetics to human immunology: how selection shapes host defence genes
Barreiro, Luis B.
Quintana-Murci, Lluis
[J]. NATURE REVIEWS GENETICS, 2010, 11 (01) : 17 - 30
[6] Bergsma D, 1968, IMMUNOLOGIC DEFICIEN, V4
[7] Primary immunodeficiencies of protective immunity to primary infections
Bousfiha, Aziz
Picard, Capucine
Boisson-Dupuis, Stephanie
Zhang, Shen-Ying
Bustamante, Jacinta
Puel, Anne
Jouanguy, Emmanuelle
Ailal, Fatima
El-Baghdadi, Jamila
Abel, Laurent
Casanova, Jean-Laurent
[J]. CLINICAL IMMUNOLOGY, 2010, 135 (02) : 204 - 209
[8] BRUTON OC, 1952, PEDIATRICS, V9, P722
[9] Cairns J., 1997, MATTERS LIFE DEATH, P257
[10] Casanova Jean-Laurent, 2007, Science, V317, P617

← 1 2 3 →