Primary Immunodeficiency

Primary Immunodeficiency

What is primary immunodeficiency?

Primary immunodeficiency conditions are relatively rare disorders and result from intrinsic defects of the immune system. They reflect abnormalities in the development and maturation of cells in the immune system leading to an increased susceptibility to infection. Due to lack of awareness about primary immunodeficiency, the diagnosis is often overlooked, or delayed in both children and adults. Undiagnosed, they may be seen in a variety of different speciality clinics, for a range of complaints related to recurrent infections - see table 1 below.

They often receive almost continuous antibiotics for these infections and are off work, or miss school for long periods of time. With early diagnosis, and appropriate immunoglobulin replacement therapy, these complications may be avoided, and the patients can lead healthy normal lives. It is therefore not unreasonable to highlight primary antibody deficiency as a costly diagnosis to miss. However, a basic knowledge of the functions of the immune system is necessary if conditions relating to immunodeficiency are to be understood.

How does it occur?

The first barriers of defence against infections are the skin, mucous membranes and the protective agents which they produce. Once the infectious agents overcome these barriers four important types of immunity come into play. They consist of antibody mediated immunity (B cells), cell mediated immunity (T cells), phagocytic cells (neutrophils and macrophages) and the complement proteins.

Immunodeficiency may occur as a result of defects of these immune responses.

The different types of primary immunodeficiency disorders evident in the Republic of Ireland may be seen in table 2. Approaches and treatment of these individual conditions differ, and due to the limited research on the variations in clinical practice, the effect on patient outcomes is uncertain for rare diseases such as primary immunodeficiencies.

A medical panel convened by the Primary Immunodeficiency Association in the UK produced a consensus document in 1994 on the management of such disorders. It was highlighted that the lack of awareness regarding primary antibody deficiency is often attributed to the widespread belief that all primary immune deficiencies present in childhood, despite the fact that a greater majority of patients present in adulthood. Hence it is important that all patients diagnosed with primary immunodeficiency should be referred to a consultant immunologist and have a full immunological assessment.

What treatment is available?

The treatment regime for some of these conditions consists of regular immunoglobulin replacement therapy. The aim of this treatment is to prevent infections and subsequent complications in order to ensure optimal growth, development and life expectancy. Replacement immunoglobulin may be administered by three routes: intravenously; intramuscularly and subcutaneously, however administration via the intramuscular route is no longer common due to painful administration. The frequency and route of administration, the risks of viral transmission and the possibility of adverse reactions to immunoglobulin should be discussed with the patient by the consultant immunologist.

Acute infections should be treated before each infusion as they may contribute to serious adverse reactions to the product. It is important for the nurse to be aware of the factors which may contribute to adverse reactions and to have the skills to manage them if they occur.

How can home therapy help?

Home therapy i.e. the self infusion of immunoglobulin at home, is much more convenient for the patient. It eliminates travelling to hospital every three weeks resulting in a considerable reduction in the time taken off work or school. At St. James’s Hospital, Dublin, Fiona Paolozzi, Home Therapy Nurse runs a home therapy training programme which has been developed for patients with primary immunodeficiency who wish to self infuse immunoglobulins at home. Each patient is carefully assessed by the consultant immunologist and certain criteria must be met. The patient must have received their infusion in hospital with no adverse reactions for 3-6 months, have easily accessible veins, a consistent carer who will be present during the infusion, a telephone and a willingness to administer their own therapy. The aim of the programme is to involve the patient in the care of their chronic illness, increase their autonomy and reduce the time patients spend attending hospital.

During the programme the patient is taught how to infuse immunoglobulin either intravenously or subcutaneously and how to deal with adverse reactions to the product. It is important that the training programme is tailored to meet individual knowledge and proficiency needs, and that support is provided for the patient during training and on discharge. The home therapy nurse will visit during the first infusion, where geographically possible and an annual review of knowledge and skills is planned. The patient is given contact numbers if a problem arises.

To date, the programme has been supported and welcomed by both patients and the Primary Immunodeficiency Association of Ireland. Suitable patients have been trained and assessed at St James’s Hospital, and are currently self infusing immunoglobulin at home. The home service has been established with the assistance of the hospital pharmacists and the pharmaceutical companies providing the products. The service will be audited after two years, though satisfaction and appreciation regarding its implementation has already been expressed by the patients involved.

What are the 10 warning signs of primary immunodeficiency?

Table 1

* Eight or more new ear infections within 1 year

* Two or more serious sinus infections with 1 year

* Two or more pneumonias with 1 year

* Recurrent, deep skin or organ abscesses

* Two or more deep-seated infections such as meningitis, osteomyelitis, cellulitis or sepsis

* Surgical intervention for chronic infection such as lobectomy, bronchiectasis, tonsillectomy, adenoidectomy, recurrent insertion or grommets or recurrent incision of boils

* Two or more months on antibiotic therapy with little benefit

* Persistent thrush in the mouth or on the skin after age 1

* Failure of an infant to gain weight or grow normally

* A family history of primary immunodeficiency

What types of primary antibody disorders are seen in the Republic of Ireland?

Table 2

Immunoglobulin deficiency

* common variable immune deficiency 21 (cases)

* X linked antibody deficiency 26

* hyper-IgM syndrome 9

Complement deficiency

* C1 esterase inhibitor deficiency 9

* C2 deficiency 6

* C6 deficiency 1

* C7 deficiency 4

* C9 deficiency 1

Other immunodeficiencies

* Severe Combined Immunodeficiency (SCID) 2

* Chronic Granulomatous Disease 3

* Wiskott-Aldrich syndrome 2

* Natural killer cell deficiency 2

* DiGeorge syndrome 3

* Chronic Mucocutaneous Candidiasis 1

Total: 90 cases (figures, February 1999)

Where can I get more information?

The Primary Immunodeficiency Association of Ireland is contactable at 083-1545300 or e-mail or website:

Useful web pages are:

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