Germline CBM-opathies: From immunodeficiency to atopy - 04/05/19
Abstract |
Caspase recruitment domain (CARD) protein–B cell CLL/lymphoma 10 (BCL10)–MALT1 paracaspase (MALT1) [CBM] complexes are critical signaling adaptors that facilitate immune and inflammatory responses downstream of both cell surface and intracellular receptors. Germline mutations that alter the function of members of this complex (termed CBM-opathies) cause a broad array of clinical phenotypes, ranging from profound combined immunodeficiency to B-cell lymphocytosis. With an increasing number of patients being described in recent years, the clinical spectrum of diseases associated with CBM-opathies is rapidly expanding and becoming unexpectedly heterogeneous. Here we review major discoveries that have shaped our understanding of CBM complex biology, and we provide an overview of the clinical presentation, diagnostic approach, and treatment options for those carrying germline mutations affecting CARD9, CARD11, CARD14, BCL10, and MALT1.
Le texte complet de cet article est disponible en PDF.Key words : CBM-opathies, CARD9, CARD11, CARD14, BCL10, MALT1, primary immunodeficiencies, combined immunodeficiency, congenital B-cell lymphocytosis, primary atopic disease
Abbreviations used : BCL10, BCR, BENTA, CADINS, CARD, CBM, CC, CID, CNS, DN, DOCK8, GOF, HSCT, IFD, IκBα, IKK, IVIG, LOF, MALT1, mTOR, mTORC, NF-κB, NGS, NK, PDZ, PID, PJP, PRP, PsV, STAT, TCR, Treg
Plan
Supported in part by the Canadian Institutes of Health Research (CIHR); Genome British Columbia (SIP007 to S.E.T.); the Canadian Allergy, Asthma and Immunology Foundation; and the British Columbia Children's Hospital Foundation. S.E.T. holds the Canada Research Chair in Pediatric Precision Health and the Aubrey J. Tingle Professorship in Pediatric Immunology. C.M.B. is a Health Professional-Investigator of the Michael Smith Foundation for Health Research and is supported by the AllerGen Emerging Clinician-Scientist Research Fellowship. H.Y.L. is funded by a University of British Columbia Four Year Doctoral Fellowship. |
Vol 143 - N° 5
P. 1661-1673 - mai 2019 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?