Primary immunodeficiency diseases
Date
2012-08
Authors
Buldeo, Suvarna
Suchard, Melinda
Esser, Monika
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group (HMPG)
Abstract
Primary immunodeficiency diseases (PIDs)
are a group of disorders with defects in the
development or function (or both) of the
immune system. Most PIDs originate from
mutations in single genes, but polygenic
forms do occur.1 The global prevalence of
PIDs varies between 0.3 and 12 per 100 000
population, and is higher in areas with high
rates of consanguinity.2 The prevalence in
South Africa is unknown, but according
to prevalence data reported from the PID
register,3 these diseases are either missed
or not reported. The possible reasons for
under-diagnosis are that patients presenting
with recurrent, persistent, severe or even
unusual infections are treated without
investigating the underlying cause, or
the diagnosis is missed in the face of the
overwhelming burden of similar clinical
presentations of infectious diseases such as
HIV and tuberculosis.
Early diagnosis is important as therapeutic
options are available to treat and prevent
long-term sequelae such as bronchiectasis,
which will improve quality of life and
decrease mortality. Basic laboratory
assays to screen for PIDs are available throughout South Africa but the threshold
for investigation among healthcare workers
is high. This review aims to increase the
clinical suspicion of PIDs in South Africa
and provide an approach to the diagnosis
and management.
Description
The original publication is available at http://www.cmej.org.za/index.php/cmej
Keywords
Primary immunodeficiency diseases, Primary immunodeficiency diseases -- Classification
Citation
Buldeo, S., Suchard, M., & Esser, M. 2012. Primary immunodeficiency diseases. Continuing Medical Education, 30(8):278-281.