Primary Immunodeficiencies

What are primary immunodeficiencies?

There are around 450 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 Clinical Immunology and Primary Immunodeficiency Unit.

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. 

Diagnosis

Primary immunodeficiencies are difficult to diagnose as patients suffering from them present with very varied symptoms prior to the suspicion of one of these diseases, 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).

Treatment

We monitor patients with primary immunodeficiencies from Catalonia and the rest of Spain, as well as international patients.

Why SJD Barcelona Children's Hospital?

This is unit, linked to the Allergy and Clinical Immunology Department, is one of the few specialised units in Paediatric Clinical Immunology in Spain.

We are a reference center for the treatment of primary immunodeficiencies in Spain accredited by the Ministry of Health (CSUR) and one of the two reference centers in Catalonia in the care of pediatric patients affected by this group of rare diseases, forming the network of units of clinical expertise (XUEC) in primary immunodeficiencies.