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Allergy, Asthma & Clinical Immunology
Published in: Allergy, Asthma & Clinical Immunology 1/2016

Open Access 01-12-2016 | Research

Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran

Authors: Saba Sheikhbahaei, Roya Sherkat, Dirk Roos, Majid Yaran, Somayeh Najafi, Alireza Emami

Published in: Allergy, Asthma & Clinical Immunology | Issue 1/2016

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Abstract

Background

Primary immunodeficiency (PID) is a heterogeneous group of inheritable genetic disorders with increased susceptibility to infections, autoimmunity, uncontrolled inflammation and malignancy. Timely precise diagnosis of these patients is very essential since they may not be able to live with their congenital immunity defects; otherwise, they could survive with appropriate treatment. DNA biobanks of such patients could be used for molecular and genetic testing, facilitating the detection of underlying mutations in known genes as well as the discovery of novel genes and pathways.

Methods

According to the last update of the International Union of Immunological Societies (IUIS) classification, patients are registered in our biobank during a period of 15 years. All patients’ data were collected via questionnaire and their blood samples were taken in order to extract and protect their DNA content.

Results

Our study comprised 197 patients diagnosed with PID. Antibody deficiency in 50 patients (25.4%), phagocytic defect in 47 patients (23.8%) and combined immunodeficiency with associated/syndromic feature in 19 patients (9.6%) were the most common PID diagnoses, respectively. The most common variant of PID in our study is common variable immunodeficiency, which accounted for 20 cases (10.1%), followed by chronic mucocutaneous candidiasis in 15 patients (7.9%) and congenital neutropenia in 13 patients (7%). Mean age at onset of disease was 4 years and mean age of diagnosis was 9.6 years. The average diagnostic delay was 5.5 years, with a range of 6 months to 46 years. Parental consanguinity and history of PID in family were observed in 70.2 and 48.9% of the patients, respectively. The majority of PID patients (93.3%) were from families with low socioeconomic status.

Conclusion

This prospective study was designed to establish a PID Biobank in order to have a high quality DNA reservoir of these patients, shareable for international diagnostic and therapeutic collaborations. This article emphasizes the need to raise the awareness of society and general practitioners to achieve timely diagnosis of these patients and prevent current mismanagements.
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Metadata
Title
Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran
Authors
Saba Sheikhbahaei
Roya Sherkat
Dirk Roos
Majid Yaran
Somayeh Najafi
Alireza Emami
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Allergy, Asthma & Clinical Immunology / Issue 1/2016
Electronic ISSN: 1710-1492
DOI
https://doi.org/10.1186/s13223-016-0166-5

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