Trip Answers

Question answered:06/06/07 Warning! this question is over two years old.

The European Primary Immunodeficiencies Conference Consensus report noted:

 

“PIDs are a diverse group of more than 100 immune disorders, many of which result from single-gene defects. The defects lead to increased susceptibility to recurrent and persistent infections...”

 
Concerning the diagnosis of PID, it states:

 

“Diagnosis first of all depends on awareness by the physician that these diseases exist and are not uncommon. Tools for diagnosis exist but are not always available. A simple and inexpensive blood test can detect 95% of PIDs. Sophisticated immunological and genetic tools can be employed to achieve a more specific diagnosis, but these are generally restricted to specialist centres of care and are not available in all Member States.”

 

Unfortunately, the report does not give any further information on the blood test to be used. [1]

 

An American practice parameter for the diagnosis and management of PID outlines a general approach to diagnosing PID:

 

“1-1. The patient exhibits symptoms and signs consistent with primary immunodeficiency. It is assumed that immunosuppressive therapies and other medical conditions potentially resulting in secondary immunodeficiency and other anatomic or biochemical conditions potentially predisposing to infection either have been excluded or are not considered sufficient to explain the observed degree of infectious susceptibility.
1-2. Antibody deficiency is most frequently encountered and commonly presents with sinopulmonary bacterial infections. If these are the only types of infections under consideration, screening for antibody deficiency is appropriate.
1-3. Other forms of primary immunodeficiency may present with distinct infectious complications with or without sinopulmonary bacterial disease. Some of these forms of infection are more or less characteristic of specific categories of immunodeficiency…"

 

Given the length of this section, and to access algorithms on diagnosing humoral, cellular and combined, phagocyte and complement deficiencies as well as treating PID, please refer to the guideline. [2]

 

The Primary Immunodeficiency Association website contains a section for GPs which lists ‘Ten Warning Signs of an Immunodefiency’ (http://www.pia.org.uk/publications/10_signs_of_pia/10_signs_01.htm). It also provides a link to
Specialist UK Centres for the Treatment of Primary Immunodeficiencies (http://www.pia.org.uk/SpecialistUKCentres2.htm). A number of these Centres are in London and it may be worth contacting them for further information on suitable screening tests for ‘ruling out’ or ‘ruling in’ PID. [3]

 

Finally, the European Society for Immunodeficiencies offers diagnostic criteria for PID plus criteria for the most common PIDs which may be of interest. (http://www.esid.org/workingparty.php?party=3). [4]

 

References
1. European Primary Immunodeficiencies Conference Consensus report. Budapest. October 2006. (http://www.eupidconference.com/Img/Documents/EUPID_ConsensusConfReportENGLISH.pdf).
2. Bonilla FA, Bernstein IL, Khan DA, Ballas ZK, Chinen J, Frank MM, Kobrynski LJ, Levinson AI, Mazer B, Nelson RP Jr, Orange JS, Routes JM, Shearer WT, Sorensen RU. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005 May;94(5 Suppl 1):S1-63. (http://www.guideline.gov/summary/summary.aspx?doc_id=7500&nbr=4445&ss=6&xl=999)
3. Primary Immunodeficiency Association. (http://www.pia.org.uk/).
4. European Society for Immunodeficiencies. (http://www.esid.org/workingparty.php?party=3).

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