Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Abstract

Primary immunodeficiency diseases (PID) comprise a heterogeneous group of inherited diseases with a wide spectrum of clinical manifestations and laboratory abnormalities. Definite diagnosis of a PID is performed most reliably by detection of a gene mutation which will allow genetic counseling. In addition, detection and confirmation of PIDs that were not severe enough during childhood to lead to a specific diagnosis would be possible. As a definite diagnosis of PID is of importance for the management of these disorders, we present a review on studies that have investigated mutations among patients with different types of PID in Iran. Although the frequency of a definite molecular diagnosis of PID in Iran is acceptable in a developing country, we believe that providing additional laboratory resources and diagnostic methods, development of specialized centers for PID, in addition to improvement of physicians' awareness, may facilitate clinical and genetic diagnosis of patients with PID in Iran.

Keywords::

• genetic defects
• Iran
• mutation analysis
• primary immunodeficiency disease

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Primary immunodeficiency diseases (PIDs) are a heterogeneous group of inherited diseases with a wide spectrum of clinical manifestations and laboratory abnormalities.

• Improved diagnostic techniques have led to an increased total number of patients and characterization of more than 200 different types of PID.

• Definite diagnosis of a PID is most reliably performed by detection of a gene mutation.

• Molecular techniques allow for genetic screening and counseling. In addition, detection and confirmation of PID that were not severe enough during childhood to lead to a specific diagnosis would be possible.

• Totally, there have been 2247 reported patients with a clinical diagnosis of PID in Iran. Among these, 35.2% of patients (790 individuals) have been definitely diagnosed by identifying the mutated genes.

• The proportion of genetically definite diagnosis varied between 84.5% (autoinflammatory disorders) and 0% (complement deficiencies).

• Although the definite molecular diagnosis rate of PIDs in Iran is similar to European countries, providing additional laboratory facilities and diagnostic methods and developing specialized centers for PID, in addition to improvement of physicians' awareness, may lead to an increased rate of clinical and definite genetic diagnoses of PIDs in Iran.