Consent was obtained by the patients or their parents. Permission was sought and granted by the local Institutional Review Board. In May of 2010 a PID database was established as a prospective ongoing hospital-based registry of all patients diagnosed with any of the PID diseases that meet the criteria for diagnosis by the World Health Organization. A pediatric clinical immunology service was established in 1984 and since then the hospital began to be a major referral for PIDs patients. The hospital has received referrals from all around the country since its opening in 1975. The King Faisal Specialist Hospital and Research Center (KFSHRC) is a tertiary level hospital for both pediatric and adult patients in the Kingdom of Saudi Arabia. Our goal is for this database to be the foundation for a national registry. Thus we report here the results for the past 3 years. In order to determine the spectrum of PIDs in a Saudi tertiary hospital, we established a database and registered all presenting patients diagnosed with PIDs. However accurate epidemiologic data remain scarce. Moreover the overall incidence of combined immunodeficiencies (CID) is estimated to be 1 in 75,000 to 100,000 live births and since most forms of CID are inherited as autosomal recessive traits, therefore anecdotal experience suggests that the incidence of CID is higher in our region than in western countries, probably exceeding 1 in 10,000 live births. Therefore a registry data from Saudi Arabia is important in particular to autosomal recessive inherited PIDs. The elevated rate of consanguineous marriages was shown in the studies of a relatively large number of patients diagnosed with an autosomal recessive inherited form of PIDs as in severe combined immunodeficiency (SCID), hyper-IgE syndrome, and hyper-IgM syndrome. This has provided a background for genetic diseases to be abundant in the Saudi population. Furthermore consanguineous marriages (first cousin marriages) in Saudi Arabia are high, present up to 60 %.

Nevertheless, they are important preliminary results, and highlight the need for ongoing, systematic data collection to learn more about PIDs in Saudi Arabia. Both are from a homogeneous population and from only one region of the country, and hence likely does not represent the whole nation. Registry data from Saudi Arabia are limited to two studies. Similar databases worldwide have shown geographical and racial variation in the spectrum of PIDs. Therefore, establishing a database is important to determine the magnitude, types and spectrum of PID disease encountered in a certain population. Primary immunodeficiency diseases (PID) are considered to be rare disorders worldwide. This study is a prerequisite to establish a national registry of primary immunodeficiency in Saudi Arabia. The study revealed that combined immunodeficiencies are not uncommon and are the most frequent occurring diagnosis in our patient population. A total of 308 (61 %) patients had undergone stem cell transplantation (SCT). Consanguinity was found in 75 % of the patients. Recurrent infections were the most common occurring clinical presentation (66 %), followed by family history (26 %). The overall mean age of symptoms onset was 17 months and the overall mean delay in diagnosis was 21.6 months. The patients’ ages ranged from less than 1 year old to 78 years, and 394 patients (78.2 %) are in the paediatrics age group (<14 years). The most common combined immunodeficiencies phenotype was T-B-SCID (17 %). Combined immunodeficiencies were the most common (59.7 %), followed by predominantly antibody deficiencies (12.3 %), congenital defects of phagocyte (9.4 %), combined immunodeficiencies with associated or syndromic features (6.2 %), disease of immune dysregulation (6 %), complement deficiencies (5.8), and defects in innate immunity (0.6 %). ResultsĪ total of 502 patients presented (53 % male and 47 % female). This is a prospective data collection by interviews and medical chart review for all PID patients followed at the King Faisal Specialist Hospital & Research Center (KFSH&RC) from May 2010 to April 2013. In this study the objective is to determine the spectrum of PID in Saudi Arabia by analyzing the database in a referral tertiary hospital. Epidemiological studies from databases worldwide show geographical variation. Primary immunodeficiencies (PID) are a group of heterogeneous diseases.

What gender does scid mostly occur