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Updated: Jul 11, 2026
09:39
TACI: An ImageJ Plugin for 3D Calcium Imaging Analysis
Published on: December 16, 2022
TACI, isotype switching, CVID and IgAD.
Emanuela Castigli1, Raif S Geha
1Division of Immunology, Children's Hospital, Department of Pediatrics, Harvard Medical School, One Blackfan Circle, Boston, MA 02115, USA. emanuela.castigli@childrens.harvard.edu
Immunologic Research
|October 6, 2007
Summary
Mutations in TACI, a gene involved in B cell function, are identified in 5% of Common Variable Immunodeficiency (CVID) patients. These TACI mutations impair antibody production, suggesting a new genetic cause for CVID.
Area of Science:
- Immunology
- Genetics
Background:
- Common Variable Immunodeficiency (CVID) is a prevalent primary immunodeficiency.
- Previously, ICOS deficiency was the primary known genetic cause for CVID.
Purpose of the Study:
- To investigate the role of TACI mutations in CVID pathogenesis.
- To understand the genetic basis of CVID beyond ICOS deficiency.
Main Methods:
- Genetic analysis of patients with CVID and related conditions.
- Functional assessment of B cells with TACI mutations.
Main Results:
- Mutations in TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) were found in 5% of CVID patients.
- TACI mutations were also observed in relatives with IgA deficiency (IgAD).
- B cells from affected individuals showed impaired IgG and IgA production in response to APRIL (a proliferation-inducing ligand), indicating defective isotype switching.
Conclusions:
- TACI mutations represent a significant genetic cause of CVID.
- Impaired B cell function due to TACI mutations contributes to CVID.
- TACI mutations may also be linked to IgA deficiency.
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