HLA Class I deficiency syndrome mimicking Wegener's granulomatosis

Alexandra Villa-Forte*, Henri De La Salle, Dominique Fricker, François Hentges, Jacques Zimmer

*Corresponding author for this work

    Research output: Contribution to journalArticleResearchpeer-review

    37 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)2579-2582
    Number of pages4
    JournalArthritis and Rheumatism
    Issue number8
    Publication statusPublished - Aug 2008


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