Familial Eosinophilic Granulomatosis with Polyangiitis

作者: Abdurhman S. Al Arfaj , Mohammad Al Anazi , Najma Khalil , Akbar Ali Khan Pathan , Narsimha Reddy Parine

DOI: 10.4236/OJRA.2017.73013

关键词: Necrotizing VasculitisGranulomatosis with polyangiitisChurg-strauss syndromeEosinophiliaMedicineANCA-Associated VasculitisAsthmaImmunologyEosinophilic

摘要: Eosinophilic granulomatosis with polyangiitis (EGPA) is an uncommon ANCA associated vasculitic disorder characterized by systemic necrotizing vasculitis of small vessels occurring exclusively among patients with bronchial asthma and tissue eosinophilia. Familial EGPA is extremely rare. Only two case reports have been published so far. We present a Saudi family with 3 cases almost three-fourths family members affected by asthma. explored genetic basis in this found that genes were mutated four siblings suggesting involvement susceptibility to EGPA.

参考文章(24)
M E Griffith, C D Pusey, HLA genes in ANCA-associated vasculitides. Experimental and Clinical Immunogenetics. ,vol. 14, pp. 196- 205 ,(1997)
Steve Rozen, Helen Skaletsky, Primer3 on the WWW for general users and for biologist programmers. Methods of Molecular Biology. ,vol. 132, pp. 365- 386 ,(2000) , 10.1385/1-59259-192-2:365
Paolo Manganelli, Pieranna Fietta, Tauro Maria Neri, Adele Zanetti, Roberto Giacosa, Familial vasculitides: Churg-Strauss syndrome and Wegener's granulomatosis in 2 first-degree relatives. The Journal of Rheumatology. ,vol. 30, pp. 618- 621 ,(2003)
Soheyla Alyasin, Reza Amin, Maryam Khoshkhui, Familial Churg-Strauss Syndrome in a Sister and Brother. Iranian Journal of Allergy Asthma and Immunology. ,vol. 14, pp. 338- 340 ,(2015)
Prateek Kumar, Steven Henikoff, Pauline C Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. ,vol. 4, pp. 1073- 1081 ,(2009) , 10.1038/NPROT.2009.86
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603
Manu Sehgal, Jerry W. Swanson, Richard A. DeRemee, Thomas V. Colby, Neurologic Manifestations of Churg-Strauss Syndrome Mayo Clinic Proceedings. ,vol. 70, pp. 337- 341 ,(1995) , 10.4065/70.4.337
DeRen Huang, Yihua Zhou, Gary S Hoffman, Pathogenesis: immunogenetic factors Best Practice & Research: Clinical Rheumatology. ,vol. 15, pp. 239- 258 ,(2001) , 10.1053/BERH.2001.0142