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Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation

Published on: August 23, 2024

Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.

Javad Mohammadi¹, Chonghai Liu, Asghar Aghamohammadi

¹Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.

Journal of Clinical Immunology

|July 25, 2009

Summary

This summary is machine-generated.

Common variable immunodeficiency (CVID) is linked to TNFRSF13B gene mutations. A homozygous mutation completely abolished TACI expression, impacting APRIL binding and B cell differentiation in Iranian patients.

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Published on: September 7, 2018

Area of Science:

Immunology
Genetics

Background:

Common variable immunodeficiency (CVID) is a heterogeneous disorder affecting immunoglobulin production.
CVID is associated with autoimmune, lymphoproliferative, and granulomatous diseases.
Mutations in the Transmembrane Activator and CAML Interactor (TACI, TNFRSF13B) gene are linked to CVID.

Purpose of the Study:

To investigate TNFRSF13B gene mutations in Iranian CVID patients.
To assess the impact of mutations on TACI expression and APRIL binding.

Main Methods:

Sequencing of the TNFRSF13B gene in 48 Iranian CVID patients.
Flow cytometry (FACS) to analyze TACI expression and APRIL binding.

Main Results:

A homozygous splice site mutation (c.61+1G>T) in TNFRSF13B led to complete absence of TACI expression and APRIL binding.
Heterozygous carriers of this mutation showed reduced TACI expression and APRIL binding, indicating a gene dosage effect.
Previously known C104R and C172Y mutations, and a novel P42T mutation, were found in heterozygous form in CVID patients.

Conclusions:

TACI mutations occur in Iranian CVID patients with similar frequency to other Caucasian populations.
The identified mutations, including the novel P42T, highlight TACI's critical role in B cell differentiation.