Background. Primary immunodeficiencies are inherited disorders of immune system predisposing affected subjects to an increased rate and severity of infection, immune dysregulation with autoimmune disease and aberrant inflammatory responses as well as matignancies. Primary immunodeficiency can occur at any age. Any compartiment of the immune system can be aftected serving as a base of primary immunodeficiencies classification. According to this, primary immunodeficiencies are classified. In 2003 Eu ro pean So ciety of Immunodeficiencies Registry was established.
Material and methods. Literature review of classification, clinical symptoms, epidemiology of primary immunodeficiencies and data of the Centre of Primary and Acuired Immunodeficiencies are presented. Here we describe a patient with primary immunodeficiency and malignancy treated and foll owed at our institution for 15 years.
Results. Three hundred primary immunodeficiencies forms are currently known. It occurs in as many as 1:2000 live births.
Institutional Primary Immunodeficiencies data base was launched in the Children’s Hospital, Affiliate of Vilnius university hospital Santariškių klinikos in 2014. Twenty-five primary immunodeficiency patients are registered at the moment in this data base, 7 of them have genetically confirmed diagnosis. All patients are followed-up and treated according to their disease recommendations. Five hematopoietic stem cell transplantations was performed and substitutional immunoglobulin therapy in case of antibody deiiciency are available in the Centre of Primary and Acuired Immunodeficiencies.
Conclusions. Twenty-five primary immunodeficiency patients are registered in Primary Immunodeficiencies data base and one third of them have genetically confirmed diagnosis. All patients are followed-up and treated according to their disease recommendations. Hematopoietic stem cell transplantation and substitution with immunoglobulin therapy is offered to patients at the Centre of Primary and Acuired Immuno deficiencies
