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Primary immunodeficiency


ORPHA: 101997

General information

Estimated occurrence
12:100,000 live births.
Primary immunodeficiencies are usually caused by changes (mutations) in different genes, and lead to incorrect development and/or function in part of the immune system. The damage is permanent and often breaks out in childhood, but one form, known as Common Variable Immunodeficiency makes its debut in adolescence or adulthood.
General symptoms
There are over 200 known immunodeficiencies in Sweden, some of which are Common Variable Immunodeficiency (CVID), Hyper IgM syndrome, Severe Combined Immunodeficiency (SCID), Chronic Granulomatous Disease (CGD), Severe Congenital Neutropenia (Kostmann syndrome) and Hereditary Angiodema (HAE). The most common primary immunodeficiency diseases cause frequent and difficult to treat bacterial infections. Warning signs of typical symptoms for children and adults have been developed. Warning signs in children can be more than six inflammations of the ear per year, recurring pneumonia, more than two bouts of sinusitis or inflammations that do not heal as expected during antibiotic treatment. For adults, it is four or more respiratory tract infections needing antibiotic treatment over a three year period, or other recurring, difficult to treat bacterial infections. The severity of the primary immunodeficiencies varies greatly. Many need gamma globulin as a substitute for the deficiency caused by the disease. The most severe of the primary immunodeficiencies are life threatening, and the children have to have a bone marrow transplant early on.

Orofacial/odontological symptoms

Long-lasting, pronounced fungal infections of the oral cavity or in the skin are possible symptoms. With Kostmann syndrome, the child experiences painful sores in the oral cavity early on, and after a tooth appears, there is often a chronic gum inflammation (gingivitis), and sometimes early tooth loss.

Advice on follow-up and treatment

  • It is important that individuals with primary immunodeficiency come in early contact with the dental services for extra preventive dental care and information about oral hygiene. Frequent infections, poor nutrition, and poorly mineralized enamel all increase the risk of caries.


MHC-basen Rare diseases Dokumentation-Ågrenska

Updated: 2019-11-12 15:01