TY - JOUR
T1 - The CARD11-BCL10-MALT1 (CBM) signalosome complex
T2 - Stepping into the limelight of human primary immunodeficiency
AU - Turvey, Stuart E.
AU - Durandy, Anne
AU - Fischer, Alain
AU - Fung, Shan Yu
AU - Geha, Raif S.
AU - Gewies, Andreas
AU - Giese, Thomas
AU - Greil, Johann
AU - Keller, Bärbel
AU - McKinnon, Margaret L.
AU - Neven, Bénédicte
AU - Rozmus, Jacob
AU - Ruland, Jürgen
AU - Snow, Andrew L.
AU - Stepensky, Polina
AU - Warnatz, Klaus
PY - 2014/8
Y1 - 2014/8
N2 - 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 κB activation. Germline mutations affecting the CBM complex are now recognized as the cause of novel combined immunodeficiency phenotypes, which all share abnormal nuclear factor κB 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.
AB - 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 κB activation. Germline mutations affecting the CBM complex are now recognized as the cause of novel combined immunodeficiency phenotypes, which all share abnormal nuclear factor κB 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.
KW - CARD11-BCL10-MALT1 signalosome complex
KW - CARMA1
KW - combined immunodeficiency
KW - congenital B-cell lymphocytosis
KW - next-generation sequencing
KW - nuclear factor κB
KW - paracaspase
KW - primary immunodeficiency diseases
UR - http://www.scopus.com/inward/record.url?scp=84905487884&partnerID=8YFLogxK
U2 - 10.1016/j.jaci.2014.06.015
DO - 10.1016/j.jaci.2014.06.015
M3 - Article
C2 - 25087226
AN - SCOPUS:84905487884
SN - 0091-6749
VL - 134
SP - 276
EP - 284
JO - Journal of Allergy and Clinical Immunology
JF - Journal of Allergy and Clinical Immunology
IS - 2
ER -