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Immunology: New Gene Mutation Linked To Antibody Deficiency

Date:
March 23, 2010
Source:
Journal of Clinical Investigation
Summary:
Individuals who have abnormally low levels of immune molecules known as antibodies have an increased susceptibility to infection with certain types of bacteria. By analyzing one such person, researchers have identified a new genetic cause of antibody deficiency, mutations in the CD81 gene.

Individuals who have abnormally low levels of immune molecules known as antibodies have an increased susceptibility to infection with certain types of bacteria. By analyzing one such person, Jacques J.M. van Dongen and colleagues, at Erasmus MC, University Medical Center Rotterdam, Netherlands, have identified a new genetic cause of antibody deficiency, mutations in the CD81 gene.

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Mutations in the CD19 gene, which generates a protein that functions in a complex with CD21, CD81, and CD225, are known to be a cause of antibody deficiency. The patient studied by van Dongen and colleagues had impaired antibody responses and an absence of CD19 expression on B cells (the immune cells that produce antibodies). Surprisingly, no mutations were detected in the patient's CD19 genes.

However, mutations were detected in both copies of the CD81 gene, and this was associated with a complete lack of CD81 expression on immune cells in the blood.

Further analysis using B cells from the patient revealed that CD81 is required for CD19 membrane expression, providing mechanistic insight into the antibody deficiency caused by CD81 mutation.

The research appears in the Journal of Clinical Investigation.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Menno C. van Zelm, Julie Smet, Brigitte Adams, Françoise Mascart, Liliane Schandené, Françoise Janssen, Alina Ferster, Chiung-Chi Kuo, Shoshana Levy, Jacques J.M. van Dongen and Mirjam van der Burg. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI39748

Cite This Page:

Journal of Clinical Investigation. "Immunology: New Gene Mutation Linked To Antibody Deficiency." ScienceDaily. ScienceDaily, 23 March 2010. <www.sciencedaily.com/releases/2010/03/100308220432.htm>.
Journal of Clinical Investigation. (2010, March 23). Immunology: New Gene Mutation Linked To Antibody Deficiency. ScienceDaily. Retrieved January 28, 2015 from www.sciencedaily.com/releases/2010/03/100308220432.htm
Journal of Clinical Investigation. "Immunology: New Gene Mutation Linked To Antibody Deficiency." ScienceDaily. www.sciencedaily.com/releases/2010/03/100308220432.htm (accessed January 28, 2015).

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