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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

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AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency.

E Farhadi¹, S Nemati², A A Amirzargar³

¹Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran; Hematology Department, School of Allied Medical Science, Tehran University of Medical Sciences, Tehran, Iran.

Allergologia Et Immunopathologia

|June 5, 2013

Summary

This study found no significant link between a specific AICDA gene variant and primary antibody deficiencies (PADs), including common variable immunodeficiency (CVID) and selective IgA deficiency (IgAD) in Iranian patients.

Keywords:

Activation induced cytidine deaminase Common variable immunodeficiency Genetic susceptibility IgA deficiency Single nucleotide polymorphism

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Area of Science:

Immunology
Genetics
Molecular Biology

Background:

Primary antibody deficiencies (PADs) increase susceptibility to bacterial infections.
Common variable immunodeficiency (CVID) and selective IgA deficiency (IgAD) are key PADs with unknown genetic causes.
A prior European study suggested a link between an AICDA gene single nucleotide polymorphism (SNP) and PADs.

Purpose of the Study:

To investigate the association between an AICDA gene intronic SNP (rs2580874) and PADs in Iranian patients.
To evaluate if this genetic variant is linked to the development of CVID or IgAD.

Main Methods:

Genotyping of the AICDA gene intronic SNP (rs2580874) using real-time PCR.
Study included 58 Iranian patients with PAD (39 CVID, 19 IgAD) and 34 healthy controls.

Main Results:

No statistically significant differences were observed in the distribution of AICDA genotypes (AA and GG) between PAD patients (CVID/IgAD) and healthy controls.
The AA genotype was less frequent in IgAD patients (10.5%) compared to CVID patients (30.8%) and controls (38.2%), but this difference was not significant.
The GG genotype frequency in PAD patients (20.7%) did not significantly differ from controls (8.8%).

Conclusions:

The studied AICDA gene variant (rs2580874) is not significantly associated with the development of CVID or IgAD in the Iranian population.
Further multi-center studies are warranted to explore potential genetic associations with PADs.