Primary Immunodeficiency

Reports from the MHC data base

Report from the Observation Chart (PDF)

Subgroups

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)
  • Hereditary Angiodema (HAE)

Codes:

ICD-10: -
ORPHA: 101997

Estimated occurrence

12:100 000 newborns

Etiology

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

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.

Orofacial/odontological treatment

  • It is important that these children 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.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-13 08:22