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The nationwide newborn screening for severe combined immunodeficiencies introduced in August 2019 has met expectations / Three young patients have already received early treatment at the Medical Center - University of Freiburg

Five months after the launch of newborn screening for severe combined immunodeficiencies (SCID), experts are very positive about its introduction. It is now part of newborn screening, which is carried out on all children on the third day of life. An expert from the Medical Center - University of Freiburg played a key role in the introduction process. While the disease can lead to serious infections and even death if left untreated, 90 percent of those affected can be cured if treated before the symptoms appear. Since the screening was introduced, three children have already been treated in Freiburg before the consequences of the immunodeficiency appeared.

"I am very pleased that the ten years of work leading up to the introduction of screening have paid off," said Dr. Carsten Speckmann, senior physician at the Department of Pediatric Immunology at the Center for Pediatrics - University of Freiburg and scientist at the Center for Chronic Immunodeficiency (CCI) at the Medical Center - University of Freiburg. "Affected children show no signs of the disease at birth and cannot be distinguished from healthy infants during routine examinations at the pediatrician's office. Screening now gives us the opportunity to help the children before the disease breaks out," says Speckmann.

The most severe form of congenital immunodeficiency

SCID is the most severe form of congenital immunodeficiency. Around 20 different genetic factors are known to promote a deficiency of so-called T lymphocytes, which can lead to the disease. The first symptoms are severe infections, especially pneumonia and diarrhea with a lack of weight gain and sometimes life-threatening autoimmune reactions. These symptoms occur in the first few months of life. If left untreated, SCID often leads to death in the first two years of life.

Newborn screening for SCID now makes it possible to detect these diseases shortly after birth. "Most affected children can be cured with a bone marrow transplant. It is crucial that they are treated before the onset of the disease if possible. This can increase the long-term survival of young SCID patients from 50 percent to more than 90 percent," says Speckmann, who played a key role in the political process of introducing SCID newborn screening in Germany. In future, around 800,000 children per year will be screened for SCID nationwide. It is estimated that up to 30 children are affected each year.

Three children already treated in Freiburg

Thanks to the screening, three children at the Medical Center - University of Freiburg have already been diagnosed with CCI and treated at the Center for Pediatrics. "It's a completely new approach when you have to tell parents of apparently healthy children about such a serious diagnosis," says Speckmann. "At the same time, it's nice to know that we can help most of them." The plan for a transplant is determined individually for each patient. The children currently diagnosed in Freiburg could be treated in the first eight weeks of life, and two of them have already been discharged home. "We will only be able to see how well the patients' immune systems are developing in a few months' time. With early therapy, the prospects of a complete cure are very good," says Speckmann.

The German Association of Pediatric Immunology, the German Society for Pediatric and Adolescent Medicine and the German Society for Newborn Screening were primarily involved in the introduction of SCID newborn screening in Germany. "We are pleased that we can offer children and families a good perspective, despite this serious illness," says Speckmann.

About the CCI

The Center for Chronic Immunodeficiency (CCI) at the Medical Center - University of Freiburg is dedicated to the diagnosis and treatment of immunodeficiencies and research into the immune system. The special feature of the CCI is that it brings together experts from the fields of immunology, infectious immunology, immunobiology, rheumatology, hematology, cell and gene therapy under one roof. From infants to the elderly, patients are treated in two specialized outpatient clinics - the paediatric and adult outpatient clinics. They suffer from congenital or acquired immunodeficiencies, frequent infections, unusual infections, unclear inflammations, autoimmune diseases or HIV diseases. Under the motto "Recognize - understand - treat immunodeficiency", the CCI helps people who suffer from rare and sometimes life-threatening disorders of the immune system. It has become the most important point of contact in Germany for patients with immune disorders.

Contact
Julia Andris
Public Relations Officer
Center for Chronic Immunodeficiency
Medical Center - University of Freiburg
Phone: 0761 270-77695
julia.andris@uniklinik-freiburg.de