Tunisia - Improving the care of children with Primary Immunodeficiency Diseases

Context 

Primary Immunodeficiency Diseases are a heterogeneous group of diseases in which a genetic defect in the immune system is responsible for increased susceptibility to infections, which can sometimes be life threatening.

The Tunisian population is characterised by a high level of consanguinity (which can be as high as 50% in some regions), which increases the risk of inheriting a copy of a defective gene from both parents (automal recessive transmission), increasing the likelihood of Primary Immunodeficiency Diseases. However, these diseases are still largely unknown and under-diagnosed, and for many Tunisian children these diseases remain undetected. Therefore, in rural regions, especially in the interior of the country, the treatment of Primary Immunodeficiency Diseases is hindered by problems relating to late diagnosis, irregular monitoring and even losing touch with patients, as well as poor compliance or even the absence of access to treatment.

Such is the background to this project, the aim of which is to improve diagnostic capacity and the management of children affected by Primary Immunodeficiency Diseases in central and southern regions of the country and establish a strategy for preventing these diseases. These conditions have a profoundly harmful and long-lasting effect on children's health. Involving mothers in the detection and prevention of recurrent infectious episodes is of the utmost importance. This project will make it possible to support them in this regard.  

Overall Objective

Improve diagnostic capacity and the management of Primary Immunodeficiency Diseases and establish a strategy of prevention in the regions of central and southern Tunisia.

Project owner

Institut Pasteur.

Beneficiaries

Direct beneficiaries:
Tunisian children affected by Primary Immunodeficiency Diseases and patients' families.

Indirect beneficiaries:
Clinicians and paediatricians in the central and southern regions, nurses in regional hospitals and doctors specialising in immunology from the Pasteur Institute. 

Anticipated outcomes

• Paediatricians are able to draw attention to the early diagnosis of Primary Immunodeficiency Diseases, request initial examinations followed by confirmatory examinations and are trained in implementing the appropriate treatment
• Nurses at the 7 regional hospitals master the techniques of administering immunoglobulin infusions, manage their potential side effects better and give advice to mothers on complying with long-term antibiotic treatment, as well as advice on hygiene
• The reference laboratory at the Pasteur Institute in Tunis improves the diagnosis of PI through the development of effective new tests, leading to faster and more accurate screening for these defects
• The reference laboratory at the Pasteur Institute in Tunis masters the use of molecular diagnostic tools with a view to preventing these diseases through genetic counselling and prenatal diagnosis
• Families of sick children have a better understanding of the disease, its consequences and its treatment
• Families of sick children are informed of the risks of recurrence of the disease in unborn siblings, and know how to prevent it
• A support network is organised to offer patients moral and material support