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Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). | LitMetric

AI Article Synopsis

  • Common Variable Immunodeficiency Disorder (CVID) is linked to recurrent infections and is often associated with the C104R mutation in the TACI gene, the most common mutation found in CVID patients.
  • A study on a family with the C104R mutation showed that individuals with this mutation exhibited a wide range of symptoms, from being asymptomatic to having significant health issues, indicating that the mutation does not guarantee the development of CVID.
  • Findings suggest that the C104R mutation does not correlate with clinical outcomes in this family, as some individuals with the mutation had mild immune responses, while others without it displayed CVID-related symptoms.

Article Abstract

Purpose: Common Variable Immunodeficiency Disorder (CVID) is a complex disorder that predisposes patients to recurrent and severe infections. The C104R mutation in the transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) is the most frequent mutation identified in patients with CVID. We carried out a detailed immunological and molecular study in a family with a C104R mutation.

Methods: We have undertaken segregation analysis of a kindred with C104R mutations of the TACI gene. Detailed immunological and molecular investigations were carried out for this kindred and the clinical phenotype was compared to the genotype.

Results: Segregation analysis of our kindred showed that inheriting single or double copy of the C104R mutation does not consign an individual to CVID. All heterozygotes in the family were phenotypically different, ranging from asymptomatic to ill-health. A family member with a wild type TACI variant had CVID-related phenotype including IgA deficiency and type 1 diabetes. Interestingly, a family member with the homozygous C104R/C104R variant did not meet the criteria for CVID because he had excellent, albeit unsustained, vaccine responses to T cell dependent and T cell independent vaccine antigens despite profound hypogammaglobulinemia.

Conclusion: The C104R mutation does not correlate with the clinical phenotypes in this family.

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Source
http://dx.doi.org/10.1007/s10875-012-9793-xDOI Listing

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