Primary Immunodeficiency

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

The major role of the Immune System is the defence of the host, and its most important function is the fight against infection. The immune system is extremely complex and many things can go wrong. A defect in the function of the immune system is called an immunodeficiency.

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 hospitalisation or lead to lifelong disability or, rarely, death.
Persistent infections that result in many months away from school/work as the patient does not respond to antibiotic therapy.

Primary immunodeficiency However the underlying cause of these infections may not be considered.

The number of PID patients per million population varies from country to country but a mean for patients needing immediate treatment has been quoted as 25 per million (European Society for Immunodeficiencies - ESID, 2005). There are estimated to be at least twice as many more patients with milder forms of PID who also require treatment. In 2005 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.

Diagnostic Protocols

Diagnostic tests for PID are widely available and diagnostic protocols are available from international scientific bodies such as ESID¹ and AAAAI² (The American Academy of Asthma, Allergy and Immunology).

These protocols are designed for both paediatric and adult clinicians and are multi-stage protocols based on expert opinions. They start from the clinical presentation of the patient and allow for cost effective screening in the early stages of diagnosis. Protocols typically include a full blood count and the quantification of serum immunoglobulin levels along with serum IgG Subclass levels, functional complement screening by RID, functional complement screening by ELISA and vaccine response tests.

Binding Site is a UK based company with subsidiary offices in USA, Germany, France, Spain and Czech Republic plus an extensive distributor network across the world. The links above take you directly to our clinical products website and show you the products we offer for the diagnosis of PID, or please contact us directly.

For patient information, visit the International Patient Organisation for Primary Immunodeficiency, the Primary Immunodeficiency Association, The Immune Deficiency Foundation or l'Association I.R.I.S. in France.

Primary Immunodeficiency (PID) Pocket Guide

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

Request your copy using the relevant codes below:

MKG423 - UK and International

MKG434 - French language version

MKG435 - Spanish language version

Educational Poster - Diagnosis of Immune System Disorders

Diagnosis of Immune System Disorders This colourful poster (841mm x 594mm, A1) 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 summarises the routine and more specialised testing that is required to diagnose those disorders. It also shows the link between acquired immunodeficiency and conditions such as leukaemia and autoimmune diseases.

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

MKG429 - English (A1)

MKG428 - French (A1)

AI035 - German DIN A1, AI036 - German DIN A3, AI037 - German DIN A4

NEW Primary Immunodeficiency brochure - MKG474