The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

被引：110

作者：

Turvey, Stuart E. ^{[1
,2
]}

Durandy, Anne ^{[3
,4
,5
]}

Fischer, Alain ^{[3
,4
,5
,6
]}

Fung, Shan-Yu ^{[1
,2
]}

Geha, Raif S. ^{[7
,8
]}

Gewies, Andreas ^{[9
]}

Giese, Thomas ^{[10
]}

Greil, Johann ^{[11
]}

Keller, Baerbel ^{[12
,13
]}

McKinnon, Margaret L. ^{[14
,15
]}

Neven, Benedicte ^{[6
]}

Rozmus, Jacob ^{[1
,2
]}

Ruland, Juegen ^{[16
]}

Snow, Andrew L. ^{[17
]}

Stepensky, Polina ^{[18
]}

Warnatz, Klaus ^{[12
,13
]}

机构：

[1] Child & Family Res Inst, Dept Pediat, Vancouver, BC V5Z 4H4, Canada

[2] Univ British Columbia, BC Childrens Hosp, Vancouver, BC V5Z 1M9, Canada

[3] Necker Childrens Hosp, Assistance Publ Hop Paris, Natl Inst Hlth & Med Res, Paris, France

[4] Necker Childrens Hosp, Assistance Publ Hop Paris, Dept Immunol & Hematol, Paris, France

[5] Univ Paris, Descartes Sorbonne Paris Cite, Imagine Inst, F-75252 Paris, France

[6] Hop Necker Enfant Malades, APHP, Unite Immunohematol Pediat, Paris, France

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

[8] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[9] Tech Univ Munich, German Canc Consortium DKTK, Klinikum Rechts Isar, Partner Site Munich Inst Klin Chem & Pathobiochem, D-80290 Munich, Germany

[10] Heidelberg Univ, Inst Immunol, D-69115 Heidelberg, Germany

[11] Heidelberg Univ, Dept Pediat Oncol Hematol & Immunol, D-69115 Heidelberg, Germany

[12] Univ Med Ctr Freiburg, CCI, Freiburg, Germany

[13] Univ Freiburg, Freiburg, Germany

[14] Univ British Columbia, Dept Med Genet, Child & Family Res Inst, Vancouver, BC V5Z 1M9, Canada

[15] Univ British Columbia, BC Childrens Hosp, Vancouver, BC V5Z 1M9, Canada

[16] Tech Univ Munich, Klinikum Rechts Isar, Inst Klin Chem & Pathobiochem, D-80290 Munich, Germany

[17] Uniformed Serv Univ Hlth Sci, Dept Pharmacol, Bethesda, MD 20814 USA

[18] Hadassah Hebrew Univ Med Ctr, Jerusalem, Israel

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2014年 / 134卷 / 02期

基金：

美国国家卫生研究院; 欧洲研究理事会; 加拿大健康研究院;

关键词：

CARD11-BCL10-MALT1 signalosome complex; primary immunodeficiency diseases; combined immunodeficiency; congenital B-cell lymphocytosis; paracaspase; next-generation sequencing; nuclear factor kappa B; CARMA1; NF-KAPPA-B; T-CELL; IMMUNE-DEFICIENCY; ECTODERMAL DYSPLASIA; CARD11; MUTATIONS; JNK ACTIVATION; MALT LYMPHOMA; CARMA1; BCL10; CLEAVAGE;

D O I：

10.1016/j.jaci.2014.06.015

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Next-generation DNA sequencing has accelerated the genetic characterization of many human primary immunodeficiency diseases (PIDs). These discoveries can be lifesaving for the affected patients and also provide a unique opportunity to study the effect of specific genes on human immune function. In the past 18 months, a number of independent groups have begun to define novel PIDs caused by defects in the caspase recruitment domain family, member 11 (CARD11)-B-cell chronic lymphocytic leukemia/lymphoma 10 (BCL10)-mucosa-associated lymphoid tissue lymphoma translocation gene 1 (MALT1 [CBM]) signalosome complex. The CBM complex forms an essential molecular link between the triggering of cell-surface antigen receptors and nuclear factor kappa B activation. Germline mutations affecting the CBM complex are now recognized as the cause of novel combined immunodeficiency phenotypes, which all share abnormal nuclear factor kappa B activation and dysregulated B-cell development as defining features. For this "Current perspectives'' article, we have engaged experts in both basic biology and clinical immunology to capture the worldwide experience in recognizing and managing patients with PIDs caused by CBM complex mutations.

引用

页码：276 / 284

页数：9

共 65 条

[1] An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains [J].