PID informations

PID Information

Booklets on 6 primary immunodeficiencies

Thanks to a generous sponsorship from CSL Behring and great support from the Immune Deficiency Foundation (IDF) USA it has been possible for IPOPI to produce booklets with descriptions of 6 different immunodeficiencies:

• X-Linked agammaglobulinemia
• Chronic Granulomatous Disease
• Hyper IgM Syndrome
• Severe Combined Immunodeficiency
• Wiscott Aldrich Syndrome
• Common Variable Immunodeficiency.

This is the first set of information, which IPOPI hope to be able to expand to more languages and more descriptions of immunodeficiencies.

All these texts are based on information from the Immune Deficiency Foundation’s “Patient and Family Handbook on Primary Immunodeficiencies”, 4th edition.

National Member Organisations can request the booklets free of charge. Patients, nurses and doctors can obtain the booklets on request from:

Johan Prévot, Executive Director IPOPI www.ipopi.org

Firside, Main Road, Downderry, Cornwall PL11 3LE, UK

Portugal Office : Av. Aida, Bloco 8, Escritorio 821, 2765-187 Estoril, Portugal

Tel/Fax: +351 21 407 5720, Mobile: +351 91 228 5049

For larger deliveries a contribution to cover shipping expenses may be requested. The booklets have the same contents in English, French, German, Spanish and Portuguese and Russian. Click your preferred language to see the booklets:

List of Some Primary Immunodeficiencies

The World Health Organization (WHO) recognizes some 100 primary immunodeficiencies including X-Linked Agammaglobulinemia (Bruton's Disease), Common Variable Immunodeficiency (also called Hypogammaglobulinemia), Selective IgA Deficiency, and Severe Combined Immunodeficiency (boy-in-the-bubble disease).

Some disorders such as Selective IgA Deficiency can be quite common, occurring as often as 1/500 to 1/1000 individuals. Others may be as rare as 1 individual affected per million. Untreated primary immune deficiencies are characterized by frequent, some times life-threatening infections and debilitating illnesses.

Because of advances in medical understanding and treatment of primary immunodeficiency diseases, many patients who in the past would not have survived childhood are now able to live nearly normal lives. Most primary immunodeficient patients require life long therapies including intravenous gammaglobulin infusion, aggressive antibiotic therapies, or bone marrow transplantation.

Five classes of primary immunodeficiency diseases have been identified:

1. B-cell (B-lymphocyte) disorders (such as X-linked agammaglobulinemia, common variable immunodeficiency, and selective Immunoglobulin A deficiency);
2. Combined T- and B-lymphocyte disorders (such as severe combined immunodeficiency, i.e. SCID, the Wiskott-Aldrich syndrome and ataxia telangiectasia, the DiGeorge Syndrome and chronic mucocutaneous candidiasis),
3. Phagocytic disorders (such as chronic granulomatous disease) and
4. Complement disorders (such as C2 deficiency and C3 deficiency).
5. Diseases with recurrent fever and inflammatory manifestations.

Secondary immunodeficiencies result from environmental factors, some therapies etc. One example is the Acquired Immune Deficiency Syndrome (AIDS), which is caused by the HIV virus. Other immunodeficiency diseases occur or are acquired as the result of having cancer, severe nutritional disorders, burns, infections, exposure to radiation or organ transplantation.

This is a list of primary immunodeficiencies. It is by far not complete as WHO lists more than 100 different diagnoses.

Links to medical information on PID

www.primaryimmune.org
The Immune Deficiency Foundation (IDF) is the national (USA) non-profit health organization dedicated to improving the diagnosis and treatment of primary immune deficiency diseases through research and education. IDF is governed by a Board of Trustees, has an active Medical Advisory Committe comprised of prominent clinical immunologists, a nationwide volunteer support network, and a dedicated professional staff.

www.kinderimmunologie.de
The Working Group Pediatric Immunology (API) consists of doctors and scientists from Germany, Austria and Switzerland. They are all occupied witrh research and treatment of PIDs in chsildren and young adults.
This website serves as an information-page for patients and their families and general practitioners (GPs) and is directed towards the German speaking audience.
(Language in the website is German)

Die API ist eine Arbeitsgemeinschaft von Ärzten und Wissenschaftlern aus Deutschland, Österreich und der Schweiz, die sich mit der Erkennung, Erforschung und Behandlung von Erkrankungen des Immunsystems bei Kindern und Jugendlichen beschäftigen.

Diese Homepage soll betroffenen Patienten und ihren Familien sowie interessierten Ärzten als Orientierung dienen, um sich über immunologische Erkrankungen und die Versorgungsmöglichkeiten im deutschen Sprachraum zu informieren.

www.esid.org
The European Society for Immunodeficiencies (ESID) is a non-profit organization having multiple aims. The main objectives are to facilitate the exchange of ideas and information among doctors, nurses, biomedical investigators, patients and their families concerned with primary immunodeficiency diseases and also to promote research on causes, mechanisms and treatment of these disorders. Recently ESID has initiated an educational program.

www.xlpresearchtrust.org
Aside from fundraising to support medical research, the charity also has two other key functions:

• To raise awareness of X-linked Lymphoproliferative Syndrom (XLP) amongst the medical and general public, and
• To act as a point of contact or a “hub” for families affected by XLP worldwide

Immunoglobulin Supply and Safety

It is important that primary immunodeficiencies are recognised as a public health issue so that there is greater awareness of the causes of the presenting symptoms and thereby diagnosis of the underlying conditions rather than the simple treatment of the symptoms themselves. Precocious treatment (there is no prevention of the disease up to now!! ) of primary immunodeficiencies will – in the long run – save huge costs for the society.

Several therapies are available for the treatment of primary immunodeficiencies. The vast majority of diagnosed conditions are treatable with blood products – especially immunoglobulins or C1-INH. It should be noted that those therapies neither cure the conditions nor do they reverse all the damage brought about by late diagnosis.

The blood product market place has been fraught with problems in the past. For example transmission of hepatitis C in some batches of immunglobulin ans HIV in blood products for haemophiliacs – but there has been no recent history of such problems due to the exhaustive viral control measures implemented during the manufacturing process of plasma derivatives.

The efficient removal of prions (responsible for vCJD) during the manufacturing processes of plasma derivatives has been well documented and measures have been taken to avoid using plasma from donors in areas of high risk.

This elimination of pathogens in immunglobulins is based on three principles:

1. Fractionation,
2. Inactivation, and
3. Elimination based on size (nanofiltration)

The market is vulnerable, however, and the need to achieve a balanced supply of product to meet growing demand can lead to acute product shortages and at times this can be a risk for primary immunodeficient patients.

It has to be appreciated that the costs involved in meeting the high standards in plasma collection and manufacturing, to ensure safe end products, are high but in the interests of the public health. Standards are demanded by regulatory authorities as well as industry itself.

It is also salutary to note that the blood product industry is the only industry that relies on the human body for its source product – i.e. human plasma – as opposed to raw non-human chemical materials.

Travel With PID (for internationals)

1. Recommendations - in general

1. It is suggested that people with primary immunodeficiencies who are traveling abroad write in advance to hospitals on their itinerary in order to reconfirm their treatment procedure.
2. In correspondence, the traveller should enquire about availability of immunoglobulins and costs that might be incurred.
3. It is advisable to carry a supply of immunoglobulins for administration by a doctor or for self-infusion.
4. It is important that the traveller carries documentation to show health status and the purpose of the drugs and other equipment carried.
5. This can take the form of a letter signed by a clinical immunologist (and if possible translated into the language of the countries to be visited (See Travel letter for doctors).
6. To avoid customs difficulty it is suggested that the traveller carry a letter (again, if possible, in the languages of the countries to be visited) signed by the clinical immunologist addressed to the customs officials at the Port of Entry (See letter to customs).
7. Medical and travel insurance should be checked well in advance of departure
8. Upon arrival in the country, discuss the arrangements with a clinical immunologist/ immunology nurse or the National Member Organization (NMO) in the event of an infusion being needed.
9. If possible, telephone before seeking treatment in any hospital.
10. There are IPOPI members in many countries.
11. Another source of assistance in each country may be the local blood bank or the Red Cross Blood Transfusion Service.
12. It is suggested that the traveller contact the NMO in the destination-country before traveling.

2. Proposal On "Letter To Customs Officials"

To Customs in: (Port of Entry)

Dear Sirs,

A person with primary immunodeficiency protects their health by taking regular infusions of immunoglobulin. This preparation is based on human plasma.

___________________ (patient’s name) who suffers from a primary immunodeficiency is traveling to ________________________. It would not be possible for ________________________ (patient's name) to travel without a supply of immunoglobulin. He/she carries sufficient units for maintenance therapy and additional amounts in the event of an emergency.

A customs official who inadvertently withholds the bottles of human plasma immunoglobulin may place _____________________ (patient's name) life in jeopardy. For the purposes of comparison it would be as if insulin were withheld from a diabetic.

In anticipation of your co-operation, I am

yours sincerely

_____________________________________
(Doctor's signature)

3. Proposal On Travel Letter To Doctors

To Whom It May Concern

Name of patient: _____________________________________

This patient has a primary immunodeficiency and is well know to me. In order to stay well or overcome severe infections immunoglobulins have to be infused.

______________________________________________
(Patient’s name)

Carries a supply of this medication and will know when and under what circumstances an infusion should take place.

Yours sincerely

______________________________________
(Doctor's signature)