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Primary immunodeficiencies

We treat different types of primary immunodeficiencies (PID) , mainly complex ones. There are around 350 different diseases caused by genetic mutations and considered rare diseases; we treat them all. Some of these diseases are also multi-systemic, and we have the capacity to treat them all at the Unit.

This type of condition is difficult to diagnose as patients suffering from them present with very varied symptoms prior to the suspicion of a primary immunodeficiency, in addition to the characteristic recurrent and/or severe infections. Given the lack of knowledge on these diseases, it is relatively common for there to be a delay in diagnosis, which can sometimes worsen patients’ prognosis. In centres of excellence like ours, with extensive experience in the detection of these conditions, this situation can be avoided.

As these are genetic diseases with very variable effects on the function of the immune system, a complexity laboratory (both immunology and genetics) is required to perform the diagnostic tests and, at times, to offer families genetic counselling (performed by the Instituto Pediátrico de Enfermedades Raras, Paediatric Institute of Rare Diseases).

There are different groups of primary immunodeficiencies, depending on the mechanism involved in each of them. Among those that we treat most frequently are the so-called humoral defects (with a defect in the synthesis of antibodies), including common variable immune deficiency and agammaglobulinaemia. We also treat the immunodeficiencies associated with syndromes, including Catch22, Kabuki, ataxia-telangiectasia syndromes and different forms of chromosomal deletions.

Our Unit also treats other forms of immunodeficiency, such as combined defects (lymphocytic defect), chronic granulomatous disease, haemophagocytic syndromes and innate immune deficiencies; in short, all forms of primary immunodeficiency with specific management depending on the particular form. 

Treatments for primary immunodeficiencies

Treatment with immunoglobulins

This is a treatment, often long-term, that can be performed either in the day hospital or at home, thanks to the treatment programme with subcutaneous immunoglobulin and training by the specialist nursing team.

It is not covered by public health

Immunomodulators and immunosuppressants

Certain primary immunodeficiencies require the use of these drugs, which attempt to modulate the immune system in case of dysfunction. The objective is to reverse situations in which the disease is aggravated by inflammatory or autoimmune phenomena.

It is not covered by public health

Haematopoietic Stem Cell Transplantation

More commonly known as bone marrow transplantation, it is currently the only curative treatment available for some severe immunodeficiencies, such as those caused by T-cell dysfunction or chronic granulomatous disease, among others.


In immunosuppressed patients, diseases preventable by vaccination are more frequent and serious. A specific vaccination reinforcement plan can prevent possible infections.

It is not covered by public health

Antibiotic prophylaxis

Antibiotics, either prophylactic or early, help to prevent infectious complications. This occurs in moderate or severe immunodeficiency (defects in T-cell function, neutropenia, or patients with defective spleen function).

It is not covered by public health