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Computational Analysis of the Caenorhabditis elegans Germline to Study the Distribution of Nuclei, Proteins, and the Cytoskeleton
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Germline CBM-opathies: From immunodeficiency to atopy

Henry Y Lu1, Catherine M Biggs1, Geraldine Blanchard-Rohner2

  • 1Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada; Experimental Medicine Program, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

The Journal of Allergy and Clinical Immunology
|May 8, 2019
PubMed

Insights

Germline mutations in CBM complex genes (CARD9, CARD11, CARD14, BCL10, MALT1) cause CBM-opathies, a spectrum of immune disorders. This review details CBM complex biology, clinical phenotypes, and management strategies.

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Caspase recruitment domain (CARD) protein-B cell CLL/lymphoma 10 (BCL10)-MALT1 paracaspase (MALT1) [CBM] complexes are crucial signaling adaptors in immune and inflammatory responses.
  • Germline mutations in CBM complex genes lead to CBM-opathies, presenting diverse clinical phenotypes from immunodeficiency to lymphocytosis.

Purpose of the Study:

  • To review key discoveries in CBM complex biology.
  • To provide an overview of the clinical spectrum, diagnosis, and treatment of CBM-opathies.

Main Methods:

  • Literature review of CBM complex biology and CBM-opathies.
  • Synthesis of clinical data on patients with germline mutations in CARD9, CARD11, CARD14, BCL10, and MALT1.

Main Results:

  • CBM complexes integrate signals from various receptors, impacting immune responses.
  • CBM-opathies exhibit a rapidly expanding and heterogeneous clinical spectrum.
  • Germline mutations in CARD9, CARD11, CARD14, BCL10, and MALT1 are associated with distinct clinical presentations.

Conclusions:

  • Understanding CBM complex function is vital for diagnosing and managing CBM-opathies.
  • A comprehensive approach to clinical presentation, diagnostics, and treatment is necessary for patients with CBM-opathies.
Keywords:
BCL10CARD11CARD14CARD9CBM-opathiesMALT1combined immunodeficiencycongenital B-cell lymphocytosisprimary atopic diseaseprimary immunodeficiencies

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