Primary Immunodeficiency

A disease state that may be present in any age group, primary immunodeficiency is often undiagnosed for long periods of time because it is masked by a wide variety of clinical symptoms.

The major role of the immune system is the defense of the host, and its most important function is the fight against infection. When part of the immune system is absent or its function is impaired, an immunodeficiency disease may occur.

Primary Immunodeficiencies (PID) are mostly due to genetic disorders, a mutation in genes coding for immune system components. It is often an inherited disorder. Infants are born with the disease although it may not be apparent until adulthood. It is therefore important to consider PID as a diagnosis for patients of all ages - babies, children and adults.

Clinical Symptoms

A patient with PID may present with a variety of clinical symptoms which are treated by the clinician.

  • Recurrent infections throughout life due to common or rare pathogens.
  • Severe infections that require intensive treatment and often hospitalization or lead to lifelong disability or, rarely, death.
  • Persistent infections in patients that do not respond to antibiotic therapy.

The underlying cause of these infections are not always apparent, but are important to consider.

The number of PID patients per million population varies from country to country but a mean value for patients needing immediate treatment has been quoted as 25 per million (European Society for Immunodeficiencies - ESID). There are estimated to be at least twice as many more patients with milder forms of PID who also require treatment. ESID estimated that as many as 70-90% of PID cases worldwide are still undiagnosed, resulting in unnecessary suffering for the patients and increased dependency on healthcare resources for the treatment of lifelong complications and disabilities.
 

A pocket-size guide that highlights the clinical warning signs for PID and summarizes the ESID3 recommendations for a diagnostic protocol.

 

MKG439

 

This poster shows the main immune defects and diseases that are associated with primary and acquired immunodeficiency.

The poster was originally produced by Prof. med. Harald Renz and Dr. med. Ileana Herzum, Department of Clinical Chemistry and Molecular Diagnostics of the University Hospital Gießen and Marburg GmbH, Marburg site, in association with Binding Site GmbH.

It highlights the main disorders of the immune system and summarizes the routine and more specialized testing that is required to diagnose those disorders. It also shows the link between acquired immunodeficiency and conditions such as leukemia and autoimmune diseases.

It is an ideal reference and training tool for Immunology laboratories involved in the diagnosis of immune deficiency disorders.



MKG429 

  1. De Vries, E. Patient centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clinical and Experimental Immunology 2006; 145:204-214
  2. Bonilla FA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Annals of Allergy, Asthma and Immunology 2005; 94:1-63
  3. www.esid.org