WHIM (warts, hypogammaglobulinaemia, infections and myelokathexis) syndrome is a rare combined primary immunodeficiency disease caused by gain-of-function (GOF) mutations in the chemokine receptor CXCR4 and includes severe neutropenia as a common feature. Neutropenia is a known risk factor for periodontitis; however, a detailed periodontal evaluation of a WHIM syndrome cohort is lacking. This study aimed to establish the evidence base for the periodontal status of patients with WHIM syndrome.

中文翻译：

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WHIM 综合征患者的牙周病

WHIM（疣、低丙种球蛋白血症、感染和骨髓缺乏症）综合征是一种罕见的复合原发性免疫缺陷病，由趋化因子受体CXCR4功能获得性 (GOF) 突变引起，其共同特征包括严重中性粒细胞减少症。中性粒细胞减少症是牙周炎的已知危险因素。然而，缺乏对 WHIM 综合征队列的详细牙周评估。本研究旨在为 WHIM 综合征患者的牙周状况建立证据基础。