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. 2018 Sep 19;9:2078. doi: 10.3389/fimmu.2018.02078

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Copyright © 2018 Lu, Bauman, Arjunaraja, Dorjbal, Milner, Snow and Turvey.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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The expanding clinical spectrum of CBM-opathies. Shown is a gradient of CBM activity caused by germline mutations. Activity ranges from absent to hyperactive CBM activity. Red indicates loss-of-function (LOF) mutations (CARD11, BCL10, and MALT1 deficiencies), yellow indicates hypomorphic mutations that do not completely abrogate signaling leading to combined immunodeficiency and atopy as well as novel emerging phenotypes (DN LOF CARD11), purple indicates gain-of-function (GOF) mutations that can lead to BENTA (GOF CARD11) or malignancy (somatic GOF in CBM). Biologics refer to antibodies, which target cells, cytokines or cell surface receptors. SCID, severe combined immunodeficiency; CID, combined immunodeficiency; AA, amino acid; HSCT, hematopoietic stem cell transplantation.