Journal article

Publication year: 2020

Journal: Clinical Immunology

Volume number: 221

ISSN: 1521-6616

eISSN: 1521-7035

DOI Link: https://doi.org/10.1016/j.clim.2020.108599

Publisher: Elsevier

Abstract: 
Individuals with the Bombay phenotype (Oh) in the ABO blood group system do not express the H, A, and B antigens but have no clinical symptoms. Bombay phenotype with clinical symptoms has been described in leukocyte adhesion deficiency type II (LAD II), a fucosylation disorder caused by mutations in SLC35C1. Only few LAD II patients have been described so far. Here we describe an additional patient, a 22-year old male, born to unrelated parents, presenting with inflammatory skin disease, periodontitis, growth, and mental retardation, admitted to the department of dentistry for treatment under general anesthesia. Pre-operative routine investigations revealed the presence of the Bombay phenotype (Oh). Genomic sequencing identified two novel triplet deletions of the SLC35C1 gene. Functional investigations confirmed the diagnosis of LAD II. Therapy with oral fucose led to the disappearance of the chronic skin infections and improvements in behavior and attention span.

Harvard Citation style: Cooper, N., Li, Y., Moeller, A., Schulz-Weidner, N., Sachs, U., Wagner, F., et al. (2020) Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing, Clinical Immunology, 221, Article 108599. https://doi.org/10.1016/j.clim.2020.108599

APA Citation style: Cooper, N., Li, Y., Moeller, A., Schulz-Weidner, N., Sachs, U., Wagner, F., Hackstein, H., Wienzek-Lischka, S., Grueneberg, M., Wild, M., Bein, G., & Marquardt, T. (2020). Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing. Clinical Immunology. 221, Article 108599. https://doi.org/10.1016/j.clim.2020.108599