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oa Current Allergy & Clinical Immunology - Meeting the needs of primary immunodeficiency patients in South Africa - some findings from the South African registry : PID article

Volume 29, Issue 1
  • ISSN : 1609-3607

 

Abstract

Primary or genetic immunodeficiencies (PID) identified in more than 300 disease entities and more than 200 genes identified, are still regarded as rare and diagnoses are frequently missed. Competing for resources with infectious epidemics such as HIV/TB makes PID diagnosis even more challenging, because PID infectious manifestations - whether severe, recurrent, unusual or persistent (SPUR), or autoimmune - may also be the result of infectious diseases. However, SPUR infections may be due to a genetic deficiency of immunity, which is often not considered because such infections are usually attributed to these endemic diseases. Multiple factors such as unsafe water sources, a lack of hygienic facilities, malnutrition, early acquisition of Epstein Barr Virus, Cytomegalovirus and many other viruses and bacteria, plus secondary immune suppression, add to the risk of infections generally, but much more so in PID patients living in developing countries.


Increased awareness of PID is critical to identify patients with known or potential novel PID early to prevent complications, end organ damage or premature death. Registries are crucial to capturing data on the spectrum of PID and treatment needs to inform healthcare providers and enable research collaborations. Including patient perspectives and paying attention to ethical issues further strengthens the quality of care for PID.

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/content/caci/29/1/EJC190525
2016-03-01
2019-10-20

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