Primary immunodeficiency diseases (PIDs) are a diverse group of genetic disorders that affect the development and/or function of the immune system. Affected individuals with PIDs are predisposed to a variety of infectious diseases as well as autoimmunity and malignancy. Since the first classic form of PID was diagnosed and introduced in 1952 by now, more than 300 different PIDs are recognised and described which among them underlying genetic causes of more than 150 diseases have been detected.
According to research studies conducted in Europe and US the overall frequency of PIDs has been estimated about 1:10,000 individuals. Such a frequency of PID is about a quarter of that of Cystic Fibrosis (1:2500) and half of that of Congenital Hypothyroidism (1:5000), but PIDs are more common than Phenylketonuria with a frequency of 1:14,000. The aforesaid data of PID frequency is based on investigations conducted in Europe and US. Since a wide range of PIDs are inherited with an autosomal recessive pattern, the incidence of PIDs with autosomal recessive pattern of inheritance among Asian population is estimated to be more than that of Eastern countries. This is largely due to the high frequency of parental consanguinity (60%) reported in Iran and other Middle East countries.
Along with progress in medical sciences in Iran, knowledge and activities in the field of PIDs have developed during last three decades. This progress can be described in three periods as follow:
First period (1978-1988):
First period began in 1970s when Professor Abolhassan Farhoudi returned to Iran after training in the field of pediatric immunology and allergy in the United Kingdom. He established the division of Clinical Immunology and Allergy at Children's Medical Center.
Second period (1988-1997):
In the second period beginning in 1988, the training program for clinical fellowship in the field of Pediatric Allergy and Immunology was established. Subsequently the clinics for affected patients with PIDs were extended and a unit for patients, who needed intravenous immunoglobulin infusion, was also established.
Third period (1997-2009):
In this period, the first scientific department of primary immunodeficiency and also the Iranian Primary Immunodeficiency Registry (IPIDR) were established and began to work. Several research collaborations with national and international centers were developed in this period which led to lots of publications in well-known international journals. Furthermore, in order to raise the awareness of physicians and general public about PID, a wide range of activities through the mass media were implemented.
Fourth period (2009-2016):
This period commenced with construction of Research Center for Immunodeficiency (RCID) with the aim of concentration of education and investigation in the field of immunodeficiency in a continual manner. At the beginning of this period, in spite of several advances in the years before 2009, lots of problems were remained regarding provision of necessary infrastructures for development of basic and clinical investigations in the area of immunodeficiency. As a result, RCID was established to tackle some problems such as low awareness of physicians about PIDs, improper and inadequate educational programs for PIDs at all Iranian medical universities, absence of adequate diagnostic tools in medical educational centers of country, low level of collaboration and scientific cooperation between basic and clinical researchers in the field of PIDs, absence of guidelines for diagnosis and treatment of PIDs, absence of research centers concentrated on PIDs, limited financial resources for basic and applied studies in the field of PIDs, lack of screening tests for early diagnosis of severe forms of PIDs. To address the aforementioned issues, RCID has implemented many effective strategies during the last 6 years.