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Scientists at the Ludwig-Maximilians-University and members of the international Care-for-Rare Alliance have detected a novel primary immunodeficiency syndrome. Patients with mutations in the gene Jagunal1 (JAGN1) are predisposed to recurrent and life-threatening bacterial infections due to the lack of a subset of white blood cells.

Researchers at the Dr. von Hauner Children’s Hospital in collaboration with multiple clinical and scientific partners in multiple countries associating Austria, France, Great Britain, Belgium, Iran, Israel, Italy and USA have discovered a novel human genetic defect causing susceptibility to severe bacterial infections.

In a group of 14 children from various countries featuring a lack of certain white blood cells (neutrophil granulocytes) the scientists discovered a flaw in the gene  „Jagunal 1“. The term „jagunal“ is Korean and means „small egg“. It had been already known that egg-cells of flies with mutations in the corresponding gene cannot grow due to decreased supply of nutrients. The international research team was able to demonstrate that the small molecule Jagunal-1 is crucial in humans to enable the functioning of neutrophil granulocytes. Contrary to most patients with other variants of inherited neutropenia syndromes the commonly used drug G-CSF is not effective due to a malfunction of the corresponding antenna (G-CSF receptor) in the immune cells. The new research indicates that another drug, named GM-CSF, may offer hope to these patients.

This scientific work was funded by the European Research Council, the German Research Foundation, and the Care-for-Rare Foundation for children with rare diseases. The results have been published in two articles in Nature Genetics.

Dr. Albrecht Matthaei

Tel: + 49 89 4400-57982
Fax: +49 89 4400-57702