Early Diagnosis and Appropriate Treatment – Improving and Saving Lives of Patients with Primary Immunodeficiency
Amos Etzioni MD1, Ricardo Sorensen MD2
For the World PI Week Steering Committee 2012*
1. Meyer Children's Hospital, 31096 Haifa, Israel
2. Department of Pediatrics Children's Hospital, 200 Henry Clay Ave. New Orleans, LA 70118
Address for correspondence: World PI Week, Interel, Greencoat House, Francis Street, London SW1P 1DH, UK. Email: firstname.lastname@example.org
*World PI Week (WPIW) is a global awareness initiative, which aims to raise the recognition and diagnosis of primary immunodeficiencies (PI) as an increasingly important group of diseases. World PI Week is celebrated on 22-29 April, culminating in the World Day of Immunology on 29 April.
WPIW Steering Committee members:
Bousfiha A, Drabwell J, Espinosa F, Etzioni A, Farrugia A, Holland S, Modell F,
Modell V, Prevot J, Schmidt R.E, Sorensen R, Vaughn G.
While in the past Primary immune deficiencies were thought to be a group of rare conditions affecting one in approximately 10,000 individuals, we know today that this is not the case. We now know that PIs (Primary Immunodeficiencies) are much more frequent and can occur at any age including in adults. Essentially almost all patients admitted to the hospital with severe life threatening, infections, and patients with less severe but recurrent infections have an abnormal immune response. While in many cases, with our current knowledge, we are able to find the precise defect, still, in other cases the primary immune defect is unknown. Almost every month a new genetic defect leading to another immune deficiency is discovered, but to understand completely the interaction between the various "players" in the immune system, is still a goal beyond reach.
All our efforts in solving the role of cells, molecules, and various organs in the normal function of the immune response are targeted in order to improve the condition of patients with immunodeficiency disorders. However, the most important improvement that needs to be achieved is early recognition of the many clinical presentations of primary immunodeficiencies. The early recognition of any of the various forms of PI quite clearly improves survival and morbidity. As an example, performing stem cell transplantation for severe combined immunodeficiencies, during the first 3 months of life will increase survival to more than 95%, in a condition that in the past was always lethal. Furthermore, early transplantation has a very important cost saving effect.(1)
Hypogammaglobulinemia and antibody deficiency is the most common defect in the immune system leading to serious infections mainly in the lungs. Some form of antibody abnormality is part of the vast majority of the various immunodeficiencies. Delay in the diagnosis of an antibody deficiency and recurrent pneumonia will lead to bronchiectasis which could lead to lung failure, with increased mortality and morbidity.(2) Antibody deficiencies also can lead to recurrent sinusitis, otitia and many other types of infections. Thus, immunoglobulin substitution should start as
soon as the state of hypogammaglobulinemia or antibody deficiency is made. In the last 30 years, the use of intravenous immunoglobulins (IVIG) became the recognized standard of care and the dosage should be personalized in order to achieve the trough level of above 600mg/dl or a dose to keep an individual patient free of severe infections. Recently, the use of subcutaneous immunoglobulin (SCIG) has gained popularity and in some countries up to 90% of the patients are treated with SCIG. In this way, the avoidance of IV (intravenous) route and the possibility of home treatment has increased patients’ convenience.(3) Unfortunately, in some parts of the world the supply of IVIG or SCIG is limited and patients do not get the appropriate therapy.
The increased efforts to improve the knowledge of physicians all over the world and awareness of the general population is an ongoing and continuous work done by the patients organizations, mainly the Jeffrey Modell Foundation (JMF) and the International Patient Organization for Primary Immunodeficiency (IPOPI) as well as several doctors’ organizations such as the European Society for primary Immunodeficiency (ESID), the European Federation of Immunological Societies (EFIS), the Latin American Society for Immunodeficiency (LASID), the African Society for Immunodeficiencies (ASID), and the Clinical immunology Society (CIS), nurses (INGID, the International Nursing Group for Immunodeficiencies), and the industry (PPTA, the Plasma Protein Therapeutics Association).
The upcoming “World PI Week” is an excellent opportunity to further achieve our goal of educating the medical and general community about PIs. Their awareness will increase prompt diagnosis and better access to appropriate treatment of children and adults whose past prognoses were very poor.
1. Buckley RH. Transplantation of hematopoetic stem cell in human severe combined immunodeficiency- long tem followup. Immunol Res. 49:25-43,2011
2. Resnick et al. Morbidity and mortality in CVID over 4 decades. Blood 2011 (Ahead of print)
3. Berger M. Choices of IgG replacment for PID: Subcutaneous IgG vs intravenous IgG and selection of optimal dose. Curr Opin Allergy Clin Immunol 11;532-8, 2011