caa a22 4500 475784405 CHVBK 20180406123654.0 cr unu---uuuuu 170329e20000801xx s 000 0 eng 10.1007/s004310000545 doi (NATIONALLICENCE)springer-10.1007/s004310000545 Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes [Elektronische Daten] [Dag Malm, Dag S. Halvorsen, Lisbeth Tranebjærg, Haakon Sjursen] Patients with the autosomal recessive lysosomal storage disease alpha-mannosidosis suffer from recurrent infections. To study the mechanisms of this immunodeficiency, six patients were matched against six healthy controls and their humoral and cellular immunocompetence investigated. No differences in the number of circulating leucocytes including B-cells, levels of immunoglobulin main classes, nor IgG subclasses were observed. However, post-immunisation serum levels of specific antibodies against poliovirus, diphtheria toxin and tetanus toxin were significantly reduced. In patients, the density of the complement-binding receptor CD11b and the Fc-receptor CD16 was significantly enhanced on monocytes and polymorphonuclear neutrophils (PMN) and the number of phagocytosing PMN was significantly increased in the presence of pooled human serum. This was not observed in the presence of autologous serum, indicating altered opsonic properties. Also in normal PMN, phagocytosis was inhibited by a factor in the serum from the patients. Despite maintained oxidative burst, patient PMN demonstrated insufficient intracellular bacterial killing. Conclusion Our data indicate that patients with alpha-mannosidosis have an immunodeficiency at both the humoral and cellular level. Springer-Verlag Berlin Heidelberg, 2000 Key words Alpha-mannosidosis nationallicence Flow cytometry nationallicence Immunodeficiency nationallicence Inborn errors of metabolism nationallicence Neutrophil function nationallicence Malm Dag Department of Medicine, University Hospital Tromsø, 9038 Tromsø, Norway e-mail: dag.malm@rito.no Tel.: +47-776-26000; Fax: +47-776-26863, NO aut Halvorsen Dag S. Department of Medicine, University Hospital Tromsø, 9038 Tromsø, Norway e-mail: dag.malm@rito.no Tel.: +47-776-26000; Fax: +47-776-26863, NO aut Tranebjærg Lisbeth Department of Medical Genetics, University of Tromsø, Tromsø, Norway, NO aut Sjursen Haakon Department of Medicine, University Hospital Tromsø, 9038 Tromsø, Norway e-mail: dag.malm@rito.no Tel.: +47-776-26000; Fax: +47-776-26863, NO aut https://doi.org/10.1007/s004310000545 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310000545 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Malm Dag Department of Medicine, University Hospital Tromsø, 9038 Tromsø, Norway e-mail: dag.malm@rito.no Tel.: +47-776-26000; Fax: +47-776-26863, NO aut NATIONALLICENCE 700 1- Halvorsen Dag S. Department of Medicine, University Hospital Tromsø, 9038 Tromsø, Norway e-mail: dag.malm@rito.no Tel.: +47-776-26000; Fax: +47-776-26863, NO aut NATIONALLICENCE 700 1- Tranebjærg Lisbeth Department of Medical Genetics, University of Tromsø, Tromsø, Norway, NO aut NATIONALLICENCE 700 1- Sjursen Haakon Department of Medicine, University Hospital Tromsø, 9038 Tromsø, Norway e-mail: dag.malm@rito.no Tel.: +47-776-26000; Fax: +47-776-26863, NO aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer