Browsing by Author "Van Velden, Mia"
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- ItemPrimary immunodeficiencies in Tygerberg Hospital and on the national PID Registry, South Africa(Stellenbosch : Stellenbosch University, 2019-12) Van Velden, Mia; Kruger, Mariana; Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Paediatrics and Child Health.Introduction: Little is known about the prevalence of primary immunodeficiencies (PID) in South Africa. The purpose of this study was to describe the profile and spectrum of patients affected by PID referred to the Tygerberg Hospital Immunology Service, situated in the Western Cape province of South Africa, during the past 25 years. Methods: This study entailed a retrospective descriptive analysis of the epidemiological data of patients with suspected PID referred to Tygerberg Hospital Immunology Service between 1 January 1991 and 5 May 2016. Data collected included date of birth, diagnosis, age at diagnosis, geographic origin, ethnicity, referral site, family history of PIDs, presenting features, immunological tests done, and outcome (alive or dead). The diagnosis was classified according to the International Union of Immunological Societies (IUIS) published in April 2014 and the European Society for Immunodeficiency published in July 2016 or listed as ‘other’. Results: The patient cohort included 500 patients between 0 and 60 years with a median age of 5 years (interquartile range=10). The majority of patients (70%) were from the Western Cape and were referred by paediatricians not linked to tertiary institutions (43%). The most common clinical presentation was recurrent respiratory tract infections (60%). The male to female ratio was 1.2:1. The main categories of PID, according to the IUIS criteria, were antibody deficiencies (52,80%), followed by complement deficiencies (19,80%), combined immunodeficiencies (7,12%), combined immunodeficiencies with associated syndromic features (6,25%), autoinflammatory disorders (3,40%), congenital defects of phagocyte number and/or function (4,20%), and defects in innate immunity (1,26%). There were no patients with phenocopies of PID disorders. The majority of patients were Caucasian (59,40%), who had antibody deficiencies (39,00%) as most common diagnosis. This was followed by 24,80% mixed- race patients and 11,60% black African patients, who mostly had complement deficiencies (10,00% and 4,00%, respectively). Conclusion: The median age of diagnosis of PID in this study was older than those in studies in other developing countries, but clinical presentation and types of PID were similar to reports from other developing countries with low rates of consanguinity. However, there was an increased number of patients diagnosed with complement deficiencies (specifically hereditary angioedema) in the Western Cape.