World PI (Primary Immunodeficiencies) Week

This week is World PI (Primary Immunodeficiencies) Week. Dr. Amos Etzioni, Professor of Pediatrics and Immunology at Meyer Children's Hospital in Haifa, Israel, has sent us the following editorial on the behalf of the World PI Week Steering Committee. We asked Dr. Etzioni to tell us about the launch of this movement:

JACI: How did the World Primary Immunodeficiencies Week movement get started?
Dr. Etzioni: The foundations of the Day of Immunology (DoI) were established on April 29th 2005 by the European Federation of Immunological Societies (EFIS) to raise awareness amongst the public, the press, politicians and decision makers about the critical importance of the immune system in everybody’s everyday life. The success of the European awareness-raising programme has led to the International Day of Immunology being celebrated worldwide since 2007. In addition, the United States Congress declared April 22-29 National Primary Immunodeficiency (PI) Awareness Week with PID activities taking place all week and culminating in World Day of Immunology (WDI) on 29 April. The opportunity therefore exists to continue to leverage the work that has been done to date and unite all stakeholders around the common objective of driving early diagnosis and optimal care for PID across Europe. ASID, CIS, EFIS, ESID, INGID, IPOPI, JMF and LASID have all partnered to support World PI Week. World PI Week may be the best vehicle to achieve continued success and keep everyone united and working towards common goals.

JACI: What are the Steering Committee's goals for this inaugural week?
Dr. Etzioni: World PI Week’s overarching mission is to raise awareness of the importance of primary immunodeficiency (PI) diseases globally and stimulate efforts to improve the recognition, diagnosis, treatment and the quality of life for people with PI world-wide. WPIW seeks to create a ‘global’ movement around PI and a central platform for local and national players, and seek to bring together, empower and engage all global stakeholders in the PI cause (patients, nurses, physicians, scientists, allied health professionals, and industry).
The first World PI Week will be celebrated on 22-29 April 2011 and will focus on increasing the understanding of these diseases and promoting optimal diagnosis.
World PI Week therefore offers a crucial, visible opportunity to inform and educate health policy-makers, schools and families, and the general public about primary immunodeficiencies (PI) to drive the earliest possible diagnosis and optimal treatment. Through events and activities promoting the warning signs of PI, seminars, public lectures, video-diaries, and press conferences, the global PI community can unite to bring about positive changes in healthcare systems and practices around the world in support of people living with PI.

JACI: What do you see as the biggest challenge(s) facing the Primary Immunodeficiencies community?
Dr. Etzioni: As we move forward in our understanding the immune system it is quite clear today that defects in the immune system are much more common than thought in the past. I believe that we should continue to increase the knowledge about possible defects leading to increase susceptibility to infections. Early treatment, due to increase awareness, is crucial for decreasing mortality and morbidity in these conditions. Furthermore, a lot of effort should be given to research in order to fully understand the pathopysiology of many of the PIDs which eventually will bring new therapeutic options .


Editorial:
Primary Immunodeficiencies (PI) used to be considered rare conditions, affecting 1 in approximately 10,000, adults and children. As will be outlined in this communication, we believe that today, the incidence and prevalence is much greater.

The late Dr. Fred Rosen, many years ago, pointed out that immunodeficiency is a pediatric emergency. The early recognition of any of the various forms of PI, quite clearly, improves outcomes. As an example, performing Stem Cell Transplantation in patients with Severe Combined Immune Deficiency (SCID), during the first 3 months of life, will increase survival to more than 95% in a condition that in the past was always lethal. Using new genetic techniques the number of genes found to cause defects in the immune system is growing every day, with more than 200 different entities described so far. This has a huge impact on the patients and their families for several reasons. First and most importantly, we can offer better and adequate treatment for the patients. Gene therapy has already been successfully performed for children with SCID due to RAG Mutations or ADA Deficiency. Secondly, many children in whom the diagnosis was not clear now can have a definitive diagnosis followed by appropriate therapy. Defining a genetic defect in the family can help the family planning their future and there is the possibility of prenatal diagnosis.

The new Neo-natal Screening, using a technique developed by Dr. Jennifer Puck, using the TREC Assay, has already been recommended by the United States Secretary of Health. Newborn Screening will help discover the patients even before any serious infectious events occur. Increased awareness of PI has had a major impact on the consequences of patients suffering from such diseases. It is well known that lung infections are very common in these cases. Delay in the diagnosis and thus recurrent pneumonia, will often lead to bronchoectasis, which may lead to lung failure. Some of us still remember the time we had to treat our patients with intramuscular immunoglobulin, which was extremely painful and with side effects. In the last 30 years, the use of Intravenous Immunoglobulins (IVIG) became the standard of care and recently, Subcutaneous Immunoglobulins (SCIG) are gaining popularity. This will encourage the possibility of home treatment, which will increase patient's compliance.

Until recently, we studied the adaptive (T and B lymphocyte) immune defects. The focus now is aimed also at the innate immune system. The tremendous contribution made by Dr. Jean-Laurent Casanova has identified many more defects in the innate immune system. Dr. Casanova described children with severe infectious episodes, who might need intensive care treatment. These are cases where no defect in the immune system was found. These severe illnesses could be described as cases of "bad luck" but are more likely, "bad genes", still to be discovered and identified. Furthermore, polymorphism in many genes may also contribute to increased susceptibility to infections. This will lead eventually to new therapeutic biological agents aiming at the specific defect.

The increased effort to improve the knowledge of physicians all over the world and awareness of the general population is ongoing. It is the continuous work done by the patient organizations, mainly the Jeffrey Modell Foundation (JMF), the International Patient Organization for Primary Immunodeficiency (IPOPI), as well as several physician organizations, such as the European Society for Immune Deficiency (ESID), and the Clinical Immunology Society (CIS), and all the World PI Week founding organizations.

The upcoming World Primary Immunodeficiency Week (WPIW) is an excellent opportunity to try to achieve our goal that the medical community and the public will understand more about PI and encourage earlier diagnosis and better treatment. There is evidence to support better outcomes with earlier diagnosis. We believe very much in what the late Dr. Robert A Good, father of Clinical Immunology, said when the first molecular genetic defects in PI were discovered:

"This is not the beginning of the end but just the end of the beginning of the field of PI"

Prof. Amos Etzioni MD on behalf of the WPIW steering committee