2009 AIP National Conference
Italian Network for Primary Immunodeficiency

Every year AIP organises its annual National Conference alongside one of the IPINET (Italian Network for Primary Immunodeficiency) biannual meetings.

The AIP National Conference is always an opportunity, awaited by all, patients and doctors, to get together and get up to date on the state of the art in PIDs.

The representatives of the 60 medical centres participating in IPINET meet twice a year to discuss the more complex cases and to review the national diagnostic and therapeutic protocols on the basis of their direct experience and the latest international scientific discoveries.

This year the parallel meetings took place on 12 and 13 June in Bologna, in the north of Italy. Here is a short report of the AIP conference:

Michele Del Zotti, AIP Chair, opened the meeting by welcoming all participants and thanked Prof. Masi and Prof. Ugazio for the hospitality and cooperation in organising the conference.

Then he made a presentation of the AIP from its beginning, highlighting the numerous national and international successes obtained in recent years, both independently and within IPOPI. Finally, Mr. Del Zotti thanked the representatives of IPINET and stressed the importance of the 10 years of mutual collaboration with IPINET, which now involves 60 centres in Italy (39 in 1999).

The first speaker, Prof. Ugazio, Director of the Paediatric Department, Bambin Gesù Hospital, Rome, saluted an important anniversary: ten years of the Italian Primary Immunodeficiency Network. He explained what has changed in this decade in the fight against PID and the fundamental contribution that IPINET has brought to PID patients and to the Italian health system. In the past, before the creation of IPINET, there were two possibilities for the patients: to rely on a specialised centre (very few in 1999), far from home, or deal with the conditions in a local hospital, but with little or no experience in PID.

With IPINET everything has changed:

• all patients are guaranteed the best methods of diagnosis and treatment
• patients are treated in a hospital near home, but with the use of updated protocols and monitored
• health migration and its related individual and social cost have decreased
• knowledge and experience are shared among the network of centres to improve the quality of care and the quality of life for patients.
• each centre registers on line the relevant patient’s information such as diagnosis, age, tests, therapy, side effect, annual follow-up, using an electronic form. All data is managed by a web based system for data collection and analysis, handled by the Italian Interuniversity Computing Centre (CINECA)
• the network has grown from 39 to 60 centres, spread all over the country, with 1022 patients currently enrolled

Prof. Ugazio concluded his presentation by thanking the AIP for financing the transport of blood samples from IPINET’s centres to the referral laboratories for molecular diagnosis and for its ongoing support to IPINET.

Dr. Soresina, Head of Immunology Unit, Clinic of Paediatrics, University of Brescia, is the next speaker. Her report focused on the importance of the follow-up and vigilance of patients with primary immunodeficiencies. Patients with primary immunodeficiencies have a higher incidence of developing serious or autoimmune disorders or malignancies as a consequence of their prime disorder. To keep complications under control patients need to be constantly monitored by a coordinated team of trained multidisciplinary specialists. This is even more true for older patients as diseases typical of old age may also occur. Another important aspect, emphasized by Dr. Soresina, is the need to integrate primary care physicians and paediatricians in the management of the patients.

The last speaker of the day, Prof. Cristina Pietrogrande, Director of the Clinic of Paediatrics, University of Milan, presented a project, financed by the AIP, on the prevention and treatment of respiratory complications in humoral immunodeficiencies aimed at improving the patients quality of life and prognosis. The outcome of this research will be published next year. Prof. Pietrogrande also stressed the importance of chest physiotherapy and physical activity to maintain bronchi and lungs free of mucus.

A get together dinner allowed all participants, from the deep South to the farthest northern borders of Italy, to meet and share experiences, ideas and proposal for new activities.

On Saturday, June 13th, the room was crowded and the conference starts with a short welcome from Dr. Cavina, Director of the S. Orsola Hospital in Bologna, host of the meeting. Dr. Cavina expressed appreciation of what is being done at a national level for rare disorders, like PID, and hopes that Bologna will take part actively in the national network for these diseases.

In his report, Prof. Plebani, Director of the Clinic of Paediatrics, Brescia, and Co-ordinator of IPINET, presented a history the Italian Network for Primary Immunodeficiencies, IPINET.

In 1999, because of the increasing complexity of PID management, 39 Italian centres set-up a collaborative group involving both paediatric and adult immunological centres and the Italian Network for PID was established with the aim to increase awareness of these disorders among physicians and to provide the best clinical assistance to all patients on the national territory.

Representatives of IPINET have jointly formulated and adopted diagnostic and therapeutic protocols for XLA, AAR, CVID, WAS, THI, Del 22, AT, CGD. The protocols for PID are accessible on line to all physician. Referral laboratories have been identified for molecular analysis and research has discovered that the same diseases can be caused by different genes. For instance, for agammaglobulinemia (data collected from 174 patients) we observed that it may be caused by a mutation in the Btk gene or other genes, and all patients now know the exact cause of their condition. After the introduction of the protocols for PID, 99 per cent of patients are being treated throughout Italy in the best way. Regarding CVID, data from more than 400 patients is recorded. About 50 of them are on subcutaneous home therapy, which allows a greater autonomy.

65 patients with CGD are recorded: this difficult condition requires constant vigilance to symptoms to prevent complications. Ataxia teleangectasia is a complex disease, affecting, in addition to the immune system, other organs and systems, due to a defect in DNA repair. Currently the effectiveness of drugs is not proven. A multicentre study is being carried out on the effectiveness of the use of steroids for the treatment of symptoms associated with AT.

The introduction of national protocols has increased the knowledge and awareness of PID, has improved early diagnosis and better treatment of patient.

After Professor Plebani’s interesting presentation, Prof. Biondi, Director of the Paediatric Psychology Unit, Bambin Gesù Hospital in Rome, took the floor.

He emphasised the need of psychological support to families and the need to define the necessary training of psychologists to address families with PID, as they face three different levels:

1) a disorder
2) a rare disorder
3) an orphan disease.

Like all chronic disorders, primary immunodeficiencies create uncertainty, stress, depression, loneliness and isolation. A helpful tool for patients and their family can be represented by “group therapy” in order to share difficulties, but also to learn how to cope with the disease and accept the diversity.

Finally, Professor Spadaro, from Naples University, illustrated a new project, funded by the AIP, regarding a cancer onset surveillance study in patients with PID, aimed at identifying markers predictive of malignancies. In fact, patients with PID have an increased occurrence of cancer predisposition, so we need to monitor cancer onset through appropriate follow-up protocols. Preliminary results are promising, but highlight the need to expand the sample of patients in the study.

The conference ended with the presentation of the activity of the AIP regional groups and last, but not least, a long question & answer session.

From AIP, a big thank you to the speakers for sharing these moments with us and to all those present, patients, relatives and friends. See you next year!!

Massimo Prencipe,
AIP Board member