Early symptoms in children with primary immunodeficiency diseases
Primary immunodeficiency diseases are rare. They represent a heterogenous group of disorders characterized by an increased susceptibility to infections. In Norway, 372 patients are diagnosed in a population of 4, 5 million people. Among these are 117 children. Ninety-three of them have been included in this study. The goal has been to evaluate what symptoms the children present early in their disease. What brings them to the doctor and what symptoms do they present at the very first visit?
Sixty-five of the 93 patients in the study were boys. Seventy-one, more boys than girls, reported symptoms before one year of age. In total, 33 reported symptoms from the skin or mucosa. Twenty-seven reported upper and 24 lower respiratory symptoms. Only a few presented with serious disease requiring hospitalisation. Children with antibody deficiencies reported more upper respiratory infections, and a high number of otitis. Children with combined deficiencies and other immunodeficiency syndromes reported eczema, bleeding tendency and lower respiratory infections. Phagocytic diseases showed a high number of upper respiratory infections and skin infections compared to the other groups. Immunodeficiencies associated with other congenital diseases presented a high number of stomatitis.. Thirty-seven of 93 (40 %) had a family history of immunodeficiency disease defined as either diagnosed or suspected disease, explained or unexplained childhood deaths, or both. It was surprising to find that only six children contacted a doctor because of family history. Increased attention among doctors and active interviewing about family history are therefore important to discover new cases.