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.

ABO血型系统中具有孟买表型（Oh）的个体不表达H，A和B抗原，但没有临床症状。具有临床症状的孟买表型已在白细胞粘附缺乏症II型（LAD II）中描述，这是一种由SLC35C1突变引起的岩藻糖基化疾病。到目前为止，仅描述了少数LAD II患者。在这里，我们描述了另一名患者，一名22岁的男性，出生于无亲戚的父母，患有炎症性皮肤病，牙周炎，生长和智力低下，目前已进入牙科部门接受全身麻醉治疗。术前例行调查显示存在孟买表型（Oh）。基因组测序确定了SLC35C1的两个新型三联体缺失基因。功能研究证实了LAD II的诊断。口服岩藻糖治疗可导致慢性皮肤感染消失，并改善行为和注意力范围。