“…Etiologically, the HLA alleles in GPA have been reported as HLADPB1 *04:01. 2,3 In the present case, our patient was found to have HLADPB1 *04:02:01 and *05:01, which were unique to this patient. No vasculitic lesions were observed on the CT in the nasal and maxillary sinuses or in the lung field, despite the symptoms of nasal bleeding, ruling out respiratory involvement.…”
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
“…Etiologically, the HLA alleles in GPA have been reported as HLADPB1 *04:01. 2,3 In the present case, our patient was found to have HLADPB1 *04:02:01 and *05:01, which were unique to this patient. No vasculitic lesions were observed on the CT in the nasal and maxillary sinuses or in the lung field, despite the symptoms of nasal bleeding, ruling out respiratory involvement.…”
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
“…Furthermore, previous studies have suggested that the most consistent loci associated with GPA was HLA‐DPB1*0401 . Interestingly, in a recent case of a familial GPA encompassing three Hindu patients (father, daughter and son), all of them shared the identical HLA‐DPB1*0401 allele . Also, it was associated with MPA in dominant models.…”
The rs3117242 of HLA-DPB1 could be considered a genetic risk factor for GPA in Chinese Han people. These findings provide further insights and clues into the etiology of GPA and MPA.
“…The majority describe familial clusters of patients presenting separated in time, but with similar clinical phenotypes and the same ANCA type. We previously reported three members of an Indo-Asian family with GPA who all presented with ENT and renal involvement [ 5 ]. Hay et al [ 6 ] reported on two siblings with GPA, both with renal and pulmonary involvement, and Sewell and Hamilton [ 7 ] reported a mother and daughter with GPA, both with ENT and renal involvement.…”
Anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) is a group of rare autoimmune diseases. Although the aetiology of AAV is uncertain, it is likely that genetic and environmental factors contribute. We report the unusual case of two brothers presenting with AAV with differing clinical pictures and differing ANCA specificity. There is a recently identified difference in genetic risk factors associated with ANCA specificity, making it surprising that first-degree relatives develop AAV with differing clinical and serological features. Our report illustrates the complex aetiology of AAV and suggests that further research on the interaction of genetic and environmental factors is needed.
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