ICON: The Early Diagnosis of Congenital Immunodeficiencies

被引：28

作者：

Routes, John ^{[1
,2
,22
]}

Abinun, Mario ^{[3
]}

Al-Herz, Waleed ^{[4
]}

Bustamante, Jacinta ^{[5
]}

Condino-Neto, Antonio

De La Morena, Maria Teresa ^{[6
]}

Etzioni, Amos ^{[7
,8
]}

Gambineri, Eleonora ^{[9
]}

Haddad, Elie ^{[10
,11
]}

Kobrynski, Lisa ^{[12
]}

Le Deist, Francoise ^{[10
,13
]}

Nonoyama, Shigeaki ^{[14
]}

Oliveira, Joao Bosco ^{[15
]}

Perez, Elena ^{[16
]}

Picard, Capucine ^{[17
,18
]}

Rezaei, Nima

Sleasman, John ^{[19
]}

Sullivan, Kathleen E. ^{[20
]}

Torgerson, Troy ^{[21
]}

机构：

[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA

[2] Childrens Res Inst, Milwaukee, WI 53226 USA

[3] Newcastle Tyne Hosp NHS Fdn Trust, Great North Childrens Hosp, Dept Pediat Immunol, BMT Unit, Newcastle Upon Tyne, Tyne & Wear, England

[4] Kuwait Univ, Fac Med, Dept Pediat, Safat, Kuwait

[5] Inst Natl Sante & Rech Med, Lab Human Genet Infect Dis, Necker Branch, Paris, France

[6] Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA

[7] Technion Israel Inst Technol, Rambam Med Ctr, Dept Pediat, Haifa, Israel

[8] Technion Israel Inst Technol, B Rappaport Sch Med, Haifa, Israel

[9] Univ Florence, Anna Meyer Childrens Hosp, Dept Sci forWoman & Childs Hlth, Haematol Oncol Dept,BMT Unit, I-50139 Florence, Italy

[10] Univ Montreal, Dept Pediat, CHU St Justine Res Ctr, Montreal, PQ H3C 3J7, Canada

[11] Univ Montreal, Dept Microbiol, CHU St Justine Res Ctr, Montreal, PQ, Canada

[12] Emory Univ, Dept Pediat, Atlanta, GA 30322 USA

[13] Univ Montreal, Dept Microbiol & Immunol, CHU St Justine Res Ctr, Montreal, PQ H3C 3J7, Canada

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

[15] Inst Med Integral Prof Fernando Figueira IMIP, Recife, PE, Brazil

[16] Univ Miami, Miller Sch Med, Dept Pediat, Miami, FL 33136 USA

[17] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiencies, F-75015 Paris, France

[18] Paris Descartes Univ, INSERM U1163, Imagine Inst, Neckar Med Sch,Lab Human Genet Infect Dis,Necker, Paris, France

[19] Duke Univ, Sch Med, Div Allergy & Immunol, Durham, NC 27710 USA

[20] Childrens Hosp Philadelphia, Div Allergy & Immunol, Philadelphia, PA 19104 USA

[21] Univ Washington, Sch Med, Seattle, WA 98101 USA

[22] Med Coll Wisconsin, MACC Fund Res Ctr, Milwaukee, WI 53226 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2014年 / 34卷 / 04期

关键词：

Primary immunodeficiencies; combined immunodeficiencies; severe combined immunodeficiencies; diagnosis; treatment; consensus; global-consensus; HYPER-IGM SYNDROME; WISKOTT-ALDRICH-SYNDROME; STEM-CELL TRANSPLANTATION; CHRONIC GRANULOMATOUS-DISEASE; ANHIDROTIC ECTODERMAL DYSPLASIA; BONE-MARROW-TRANSPLANTATION; X-LINKED IMMUNODEFICIENCY; 22Q11.2 DELETION SYNDROME; SYNDROME PROTEIN WASP; PYOGENIC BACTERIAL-INFECTIONS;

D O I：

10.1007/s10875-014-0003-x

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Primary immunodeficiencies are intrinsic defects in the immune system that result in a predisposition to infection and are frequently accompanied by a propensity to autoimmunity and/or immunedysregulation. Primary immunodeficiencies can be divided into innate immunodeficiencies, phagocytic deficiencies, complement deficiencies, disorders of T cells and B cells (combined immunodeficiencies), antibody deficiencies and immunodeficiencies associated with syndromes. Diseases of immune dysregulation and autoinflammatory disorder are many times also included although the immunodeficiency in these disorders are often secondary to the autoimmunity or immune dysregulation and/or secondary immunosuppression used to control these disorders. Congenital primary immunodeficiencies typically manifest early in life although delayed onset are increasingly recognized. The early diagnosis of congenital immunodeficiencies is essential for optimal management and improved outcomes. In this International Consensus (ICON) document, we provide the salient features of the most common congenital immunodeficiencies.

引用

页码：398 / 424

页数：27

共 255 条

[91] Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better? [J].

Gennery, Andrew R. ;

Slatter, Mary A. ;

Grandin, Laure ;

Taupin, Pierre ;

Cant, Andrew J. ;

Veys, Paul ;

Amrolia, Persis J. ;

Gaspar, H. Bobby ;

Davies, E. Graham ;

Friedrich, Wilhelm ;

Hoenig, Manfred ;

Notarangelo, Luigi D. ;

Mazzolari, Evelina ;

Porta, Fulvio ;

Bredius, Robbert G. M. ;

Lankester, Arjen C. ;

Wulffraat, Nico M. ;

Seger, Reinhard ;

Guengoer, Tayfun ;

Fasth, Anders ;

Sedlacek, Petr ;

Neven, Benedicte ;

Blanche, Stephane ;

Fischer, Alain ;

Cavazzana-Calvo, Marina ;

Landais, Paul .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2010, 126 (03) :602-U342

[92] Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002 [J].

Gennery, AR ;

Khawaja, K ;

Veys, P ;

Bredius, RGM ;

Notarangelo, LD ;

Mazzolari, E ;

Fischer, A ;

Landais, P ;

Cavazzana-Calvo, M ;

Friedrich, W ;

Fasth, A ;

Wulffraat, NM ;

Matthes-Martin, S ;

Bensoussan, D ;

Bordigoni, P ;

Lange, A ;

Pagliuca, A ;

Andolina, M ;

Cant, AJ ;

Davies, EG .

BLOOD, 2004, 103 (03) :1152-1157

[93] Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome [J].

Gennery, AR ;

Barge, D ;

O'Sullivan, JJ ;

Flood, TJ ;

Abinun, M ;

Cant, AJ .

ARCHIVES OF DISEASE IN CHILDHOOD, 2002, 86 (06) :422-425

[94] Bone marrow transplantation does not correct the hyper IgE syndrome [J].

Gennery, AR ;

Flood, TJ ;

Abinun, M ;

Cant, AJ .

BONE MARROW TRANSPLANTATION, 2000, 25 (12) :1303-1305

[95] Frequency of 22q11 deletions in patients with conotruncal defects [J].

Goldmuntz, E ;

Clark, BJ ;

Mitchell, LE ;

Jawad, AF ;

Cuneo, BF ;

Reed, L ;

McDonald-McGinn, D ;

Chien, P ;

Feuer, J ;

Zackai, EH ;

Emanuel, BS ;

Driscoll, DA .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1998, 32 (02) :492-498

[96]

Gormand F, 1999, SCAND J IMMUNOL, V49, P355

[97]

GOSSAGE DL, 1990, NEW ENGL J MED, V323, P1422

[98] A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency [J].

Granados, Eduardo Lopez ;

Keenan, Jeffrey E. ;

Kinney, Matthew C. ;

Leo, Harvey ;

Jain, Neal ;

Ma, Chi A. ;

Quinones, Ralph ;

Gelfand, Erwin W. ;

Jain, Ashish .

HUMAN MUTATION, 2008, 29 (06) :861-868

[99] Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management [J].

Griffith, Linda M. ;

Cowan, Morton J. ;

Notarangelo, Luigi D. ;

Puck, Jennifer M. ;

Buckley, Rebecca H. ;

Candotti, Fabio ;

Conley, Mary Ellen ;

Fleisher, Thomas A. ;

Gaspar, H. Bobby ;

Kohn, Donald B. ;

Ochs, Hans D. ;

O'Reilly, Richard J. ;

Rizzo, J. Douglas ;

Roifman, Chaim M. ;

Small, Trudy N. ;

Shearer, William T. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (06) :1152-1160

[100] Hyper-IgE syndrome with recurrent infections - An autosomal dominant multisystem disorder [J].

Grimbacher, B ;

Holland, SM ;

Gallin, JI ;

Greenberg, F ;

Hill, SC ;

Malech, HL ;

Miller, JA ;

O'Connell, AC ;

Puck, JM .

NEW ENGLAND JOURNAL OF MEDICINE, 1999, 340 (09) :692-702

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