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Volume 45, Number 6, December 2012

Beyond the apparent: Subtle presentation of immunodeficiencies in the age of personalized medicine

Chi-Chang Shieh, Chih-Hsing Hung

Received: August 11, 2012       Accepted: August 23, 2012   


Corresponding author:
  • Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
  • Department of Pediatrics, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung, Taiwan


Background and purpose: 

More than 6 decades have passed since the report of hypogammaglobulinemia, the first well-characterized primary immunodeficiency disease (PID), was published.1 However, clinicians and medical researchers are still constantly amazed by the new developments in this group of complex and often fatal diseases. With the rapid increase of knowledge in clinical immunology, new entities of PID arise with a fast pace.2 At the same time, deeper understanding of the immunodeficiency diseases continues to reveal key immunological facts. These novel discoveries from researches on patients with PID also facilitate the development of new clinical tools to benefit these patients with increased susceptibility to pathogenic microorganisms.3

At least 176 hereditary entities have been described in this group of diseases and many of them are clinically apparent from an early age.4 Like most inheritable diseases, PIDs have been traditionally known as the devastating diseases caused by mutations on key functional proteins, which lead to total or nearly total loss of immune defense. However, more complex immunopathogenic mechanisms have been found to impede immune responses against specific microorganisms and lead to subtle or late-onset immunodeficiencies in otherwise “healthy” individuals.