More than two sinus infections in a year indicate: Child may have congenital immunodeficiency

A child who comes down with more than two sinus infections a year, repeatedly develops deep pus-filled sores on the skin or simply shows slowed growth may have a congenital immunodeficiency.
The possibility usually occurs to parents and paediatricians late, if at all, because the disorder is quite rare and manifests itself only indirectly. Early diagnosis and therapy can prevent serious damage to health.
The purpose of the immune system, which a person is born with and which adapts over time, is to defend the body against invaders such as infectious organisms. "If processes in this complex system don't function or components are damaged, infections can be more troublesome or frequent than normal.
"Or they can cause permanent damage to organs," explained Volker Wahn, head of the Immunodeficiency Centre of Charite university hospital in Berlin. A case of herpes encephalitis, for example, which is an inflammation of the brain, can leave lasting damage. Cases of pneumonia can develop into bronchiectasis, characterised by abnormal cylindrical or saccular dilations of the bronchi, the major air passageways of the lungs.
More than 200 immunodeficiency syndromes are now known. The number of affected people is only guesswork, though. "We treat about 450 patients at Charite. Extrapolating from that comes to about 3,000 diagnosed cases in Germany," Wahn said. There are also cases that go undetected or unreported. Nearly 30,000 random telephone interviews in the United States indicated a frequency of one in 2,000 Americans with an immunodeficiency. "This methodology is questionable, but we don't have better numbers," Wahn said. "My personal guess is that one in 5,000 people in our population is affected."
Because the number of cases is low and the symptoms are extremely varied, a diagnosis is very difficult. "This makes it all the more important to be on the lookout for possible warning signs, particularly in infancy and childhood," noted Gabriele Gruendl, co-founder and chairwoman of the German Patient Organisation for Primary Immunodeficiencies.
An important part of the group's work is its distribution of a list of 12 warning signs of a possible congenital immunodeficiency in children. "Although this list isn't evidence-based, it's an outgrowth of decades of professional experience and can be applied to the majority of our patients," said Gruendl.
The parents and doctor of a child with an immunodeficiency regard many of the warning signs, such as sinus infections, as normal illnesses at first. Their suspicion is not aroused until the infections are recurrent, so valuable time is lost. A further difficulty is that symptoms appear at very different times.
"Some symptoms become evident during or immediately after birth, which is the case in severe combined immunodeficiency (SCID), for example," said Ulrich Baumann, a specialist in paediatrics and adolescent medicine at Hanover Medical School.
"Others appear in different phases of life. Still others come suddenly and seemingly out of nowhere, such chronic granulomatous disease," a genetic disorder of the immune system leading to repeated and severe infections.
If an immunodeficiency is suspected, the first step towards a diagnosis can be taken in a doctor's surgery. "A paediatrician or general practitioner does a differential blood count and measures immunoglobulin (infection-fighting proteins) levels along with one or two antibodies to immunisations," Wahn said. Should these tests detect evidence of a congenital immune defect or if the doctor is uncertain, a second diagnosis follows and, if necessary, therapy or observation at an out-patient clinic.
The therapy is geared to the immune defect. "For the various forms of antibody deficiencies, immunoglobins, which are antibodies, are taken from donors' blood plasma and then regularly injected into a vein or subcutaneous fatty tissue of the patient," Gruendl said. In cases of SCID, a bone marrow or stem cell transplantation may be performed.