Germline CBM-opathies: from immunodeficiency to atopy

HY Lu, CM Biggs, G Blanchard-Rohner… - Journal of Allergy and …, 2019 - Elsevier
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 …
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