Germline CBM-opathies: From immunodeficiency to atopy

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

卷:143

Review

Lu, Henry Y.^1,2  Biggs, Catherine M.^1,2  Blanchard-Rohner, Geraldine¹  Fung, Shan-Yu^3,4  Sharma, Mehul¹  Turvey, Stuart E.^1,2 

[1] British Columbia Childrens Hosp, Dept Pediat, Vancouver, BC, Canada

[2] Univ British Columbia, Fac Med, Expt Med Program, Vancouver, BC, Canada

[3] Tianjin Med Univ, Minist Educ, Dept Immunol, Tianjin, Peoples R China

[4] Tianjin Med Univ, Minist Educ, Key Lab Immune Microenvironm & Dis, Tianjin, Peoples R China

关键词: CBM-opathies;    CARD9;    CARD11;    CARD14;    BCL10;    MALT1;    primary immunodeficiencies;    combined immunodeficiency;    congenital B-cell lymphocytosis;    primary atopic disease;   

DOI  :  10.1016/j.jaci.2019.03.009

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

Free