How to improve the recognition of primary immunodeficiencies (PID)
DOI:
https://doi.org/10.61651/rped.2017v69n2p36-44Keywords:
Primary Immunodeficiency DiseasesAbstract
The primary immunodeficiency diseases (PID) are genetic diseases caused by a dysfunction of the immune system. They primarily manifest with a wide range of infections. The pattern, frequency and severity of infection depend on the underlying immunological defect, and geographical and social determinants. The clinical presentation of PID may include features of autoimmunity or inflammation. As infections are common in childhood, a high level of awareness is needed to investigate those that may be caused by an immune defect. Predominantly antibody deficiencies were the most common of PID.
The warning signs provide a useful guide to the need for investigation. It is not an easy task to identify a primary immunodeficiency efficiently, the recognition of clinical presentation patterns of PID of great help. The medical history, clinical presentation
and causative organism guide the laboratory investigation of PID. Basic laboratory screening (HIV screening, full blood count, differential count, immunoglobulins and complement) is readily available to identify the majority of significant defects.
PID worldwide is more common than is generally believed. In Peru, diagnosis may be masked by a high background prevalence of infectious diseases. PIDs are seldom reported in Peru, fewer than 200 PID cases have been reported. It is hoped that this article increases awareness of PID among general practitioners and paediatricians.
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