Hyper IgM syndromes

被引：50

作者：

Gulino, AV

Notarangelo, LD

机构：

[1] Univ Brescia, Dept Pediat, I-25123 Brescia, Italy

[2] Univ Brescia, Inst Mol Med Angelo Nocivelli, Brescia, Italy

来源：

CURRENT OPINION IN RHEUMATOLOGY | 2003年 / 15卷 / 04期

关键词：

immunodeficiency; class switch recombination; somatic hypermutation;

D O I：

10.1097/00002281-200307000-00009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The immune defense against extracellular pathogens is largely dependent on antibody production. Class switch recombination and somatic hypermutation shape the secondary antibody repertoire in peripheral lymphoid tissue. In the past few years, a series of primary immune deficiencies characterized by defects in these processes and collectively referred to as hyper-IgM syndromes, have been described. Careful investigation of these rare "experiments of nature" has enabled to identify novel genes and molecular events that drive terminal B-cell differentiation. Abnormalities in these genes are likely involved also in lymphoid tumorigenesis and autoimmunity.

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收藏

页码：422 / 429

页数：8

相关论文

共 61 条

[1] CD40 LIGAND GENE DEFECTS RESPONSIBLE FOR X-LINKED HYPER-IGM SYNDROME [J].

ALLEN, RC ;

ARMITAGE, RJ ;

CONLEY, ME ;

ROSENBLATT, H ;

JENKINS, NA ;

COPELAND, NG ;

BEDELL, MA ;

EDELHOFF, S ;

DISTECHE, CM ;

SIMONEAUX, DK ;

FANSLOW, WC ;

BELMONT, J ;

SPRIGGS, MK .

SCIENCE, 1993, 259 (5097) :990-993

[2] THE CD40 LIGAND, GP39, IS DEFECTIVE IN ACTIVATED T-CELLS FROM PATIENTS WITH X-LINKED HYPER-IGM SYNDROME [J].

ARUFFO, A ;

FARRINGTON, M ;

HOLLENBAUGH, D ;

LI, X ;

MILATOVICH, A ;

NONOYAMA, S ;

BAJORATH, J ;

GROSMAIRE, LS ;

STENKAMP, R ;

NEUBAUER, M ;

ROBERTS, RL ;

NOELLE, RJ ;

LEDBETTER, JA ;

FRANCKE, U ;

OCHS, HD .

CELL, 1993, 72 (02) :291-300

[3] THE CD40 ANTIGEN AND ITS LIGAND [J].

BANCHEREAU, J ;

BAZAN, F ;

BLANCHARD, D ;

BRIERE, F ;

GALIZZI, JP ;

VANKOOTEN, C ;

LIU, YJ ;

ROUSSET, F ;

SAELAND, S .

ANNUAL REVIEW OF IMMUNOLOGY, 1994, 12 :881-922

[4] CD40: CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes [J].

Bhushan, A ;

Covey, LR .

IMMUNOLOGIC RESEARCH, 2001, 24 (03) :311-324

[5] DNA double-strand breaks in immunoglobulin genes undergoing somatic hypermutation [J].

Bross, L ;

Fukita, Y ;

McBlane, F ;

Démollière, C ;

Rajewsky, K ;

Jacobs, H .

IMMUNITY, 2000, 13 (05) :589-597

[6]

DINOLA J, 2002, NATURE, V419, P1

[7] CD40 LIGAND MUTATIONS IN X-LINKED IMMUNODEFICIENCY WITH HYPER-IGM [J].

DISANTO, JP ;

BONNEFOY, JY ;

GAUCHAT, JF ;

FISCHER, A ;

DESAINTBASILE, G .

NATURE, 1993, 361 (6412) :541-543

[8] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling [J].

Döffinger, R ;

Smahi, A ;

Bessia, C ;

Geissmann, F ;

Feinberg, J ;

Durandy, A ;

Bodemer, C ;

Kenwrick, S ;

Dupuis-Girod, S ;

Blanche, S ;

Wood, P ;

Rabia, SH ;

Headon, DJ ;

Overbeek, PA ;

Le Deist, F ;

Holland, SM ;

Belani, K ;

Kumararatne, DS ;

Fischer, A ;

Shapiro, R ;

Conley, ME ;

Reimund, E ;

Kalhoff, H ;

Abinun, M ;

Munnich, A ;

Israël, A ;

Courtois, G ;

Casanova, JL .

NATURE GENETICS, 2001, 27 (03) :277-285

[9] Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome [J].

Duplantier, JE ;

Seyama, K ;

Day, NK ;

Hitchcock, R ;

Nelson, RP ;

Ochs, HD ;

Haraguchi, S ;

Klemperer, MR ;

Good, RA .

CLINICAL IMMUNOLOGY, 2001, 98 (03) :313-318

[10] Hyper-IgM syndromes: a model for studying the regulation of class switch recombination and somatic hypermutation generation [J].

Durandy, A .

BIOCHEMICAL SOCIETY TRANSACTIONS, 2002, 30 :815-818

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