HLA class I deficiency syndrome mimicking Wegener's granulomatosis.
HLA class I deficiency syndrome mimicking Wegener's granulomatosis.
复制标题
HLA I 类缺乏综合征类似于韦格纳肉芽肿病。
DOI：
10.1002/art.23675
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发表时间：
2008
影响因子：
--
通讯作者：
J. Zimmer
中科院分区：
文献类型：
--
作者：
A. Villa;H. de la Salle;D. Fricker;F. Hentges;J. Zimmer
Herein we report the case of a 20-year-old woman who presented with multiple skin ulcers on her legs, severe pansinusitis, and chronic lung disease. She was initially thought to have Wegener's granulomatosis (WG). However, serologic studies indicated an HLA class I deficiency, which was confirmed by flow cytometry. Complementation studies and reverse transcriptase-polymerase chain reaction followed by direct DNA sequencing revealed a mutation in the gene encoding subunit 1 of the peptide transporter associated with antigen processing (TAP1). This mutation, which has not been previously described in the literature, results in a stop codon in the catalytic domain of TAP1. Although TAP mutations are rare, clinicians may encounter them in the evaluation of patients with suspected WG. In patients with WG-like symptoms it is important to consider this alternative genetic diagnosis as early as possible, not only so that appropriate antibiotic therapy can be initiated to prevent bronchiectasis, but also to avoid inappropriate immunosuppressive therapy that worsens the disease.
