Abstract
Blau syndrome (BS) is a rare familial disease transmitted as an autosomal dominant trait, characterized by arthritis, uveitis, skin rash and granulomatous inflammation. Until now BS has been observed in 136 persons belonging to 28 families as well as in 4 sporadic cases. The gene responsible for BS has recently been identified in the nucleotide-binding domain (NBD) of caspase recruitment domain (CARD15/NOD2), also involved in the pathogenesis of Crohn's disease. In addition to three missense mutations (R334Q, R334W and L469F) previously identified, a new CARD 15 mutation (E383K) has recently been described in a family followed by us for the past 25 years. The characteristics of this family which, to our knowledge, is the only one affected with BS in Italy, are the object of this manuscript. Both the proband and her daughter were originally affected with a papulonodular skin eruption and then with mild arthritis of the hands and feet. The proband, but not the daughter, complained of severe chronic bilateral uveitis, followed by glaucoma and, a few years later, by cataracts. Histological examination of skin biopsies from both subjects and a joint biopsy (daughter only), showed non-caseating granulomas with multinucleated giant ce...Continue Reading
References
Sep 1, 1990·The Journal of Pediatrics·G M PastoresD A Bovenmyer
Nov 1, 1985·The Journal of Pediatrics·E B Blau
Aug 1, 1993·American Journal of Diseases of Children·S A RaphaelS H Hsu
Nov 1, 1996·Clinical and Experimental Dermatology·L ScerriA L Thomas
Sep 17, 1998·The Journal of Pediatrics·S S TingE Fischer
Nov 23, 2000·The Journal of Biological Chemistry·Y OguraG Nunez
Jun 1, 2001·Nature·Y OguraJ H Cho
Aug 31, 2001·Nature Genetics·C Miceli-RichardJ P Hugot
Jun 8, 2002·Applied Immunohistochemistry & Molecular Morphology : AIMM·Ashrafe S EwidaOmar Bagasra
Nov 13, 2002·Arthritis and Rheumatism·Xiaoju WangCharlene J Williams
Dec 10, 2002·American Journal of Ophthalmology·Paul A LatkanyAlbert M Maguire
Jan 16, 2003·The Journal of Biological Chemistry·Stephen E GirardinPhilippe J Sansonetti
Apr 3, 2003·Gastroenterology·Tadakazu HisamatsuDaniel K Podolsky
May 27, 2003·Nature Reviews. Immunology·Naohiro Inohara, Gabriel Nuñez
Oct 3, 2003·Ophthalmology·Toru KurokawaNagahisa Yoshimura
Jan 27, 2005·The Australasian Journal of Dermatology·Grant Masel, Anne Halbert
Apr 7, 2005·European Journal of Human Genetics : EJHG·Marjan M van DuistMario De Marchi
Sep 30, 2006·Arthritis and Rheumatism·Carlos D RoséTammy M Martin
Nov 11, 2006·Rheumatology International·Tae-Hwan KimRobert D Inman
Dec 13, 2006·American Journal of Ophthalmology·Bernadette Snyers, Karin Dahan
Jan 9, 2007·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Nils MilmanOle Haagen Nielsen
Mar 21, 2007·Archives of Dermatology·Julie V SchafferHelen T Shin
Mar 30, 2007·Arthritis and Rheumatism·Mara L BeckerCarlos D Rosé
Oct 31, 2007·Arthritis and Rheumatism·Juan I ArósteguiJordi Yagüe
Citations
Jan 20, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ipek AkilSebahattin Cirak
Nov 1, 2011·Journal of Clinical Immunology·Soodabeh Fazeli DehkordyNima Rezaei
Sep 4, 2012·American Journal of Respiratory and Critical Care Medicine·Qingping YaoAndrea Arrossi
Sep 15, 2011·Arthritis Research & Therapy·Qingping YaoBo Shen
Feb 1, 2011·Clinical Chemistry and Laboratory Medicine : CCLM·Donato Rigante, Ettore Capoluongo
Dec 3, 2013·Journal of Clinical Immunology·Sima HosseinverdiNima Rezaei
Sep 4, 2014·Autoimmunity Reviews·Francesco CasoLuca Cantarini
Jan 1, 2011·Case Reports in Rheumatology·Fabiola CaracseghiConsuelo Modesto
Oct 16, 2010·QJM : Monthly Journal of the Association of Physicians·J MartinP Sève
Nov 21, 2013·Modern Rheumatology·Francesco CasoDonato Rigante
Nov 15, 2011·Expert Opinion on Investigational Drugs·Luca CantariniRolando Cimaz
Oct 30, 2012·Journal of the American Academy of Dermatology·Qingping YaoBo Shen
Aug 19, 2010·Autoimmunity Reviews·Carlo Selmi
Jun 18, 2010·Autoimmunity Reviews·Gabriele SimoniniRolando Cimaz
Dec 4, 2015·Clinical Rheumatology·Donato RiganteLuca Cantarini
Sep 7, 2012·The Journal of Pathology·Laura CampbellMatthew J Hardman
Feb 16, 2013·Scandinavian Journal of Rheumatology·S KobakA Berdeli
Jan 22, 2014·Clinical Rheumatology·Francesco La TorreFlorenzo Iannone
Aug 24, 2013·Mediators of Inflammation·Antonio VitaleLuca Cantarini
Nov 28, 2013·International Journal of Rheumatology·Francesco CasoLuca Cantarini
Jan 10, 2017·Expert Review of Clinical Immunology·Donato Rigante
May 5, 2009·Nature Reviews. Rheumatology·Hal M Hoffman, Anna Simon
Aug 6, 2011·Nature Reviews. Gastroenterology & Hepatology·Majid A AlmadiSubrata Ghosh
Sep 27, 2019·Autoimmunity·Jelena VelickovicOzturk Ozdemir
Jul 27, 2012·Current Opinion in Rheumatology·James W Verbsky
Feb 11, 2021·Children·Akiko ArakawaNobuo Kanazawa
Oct 21, 2010·Autoimmunity Reviews·Alessandra Goncalves CommodaroLuiz Vicente Rizzo
Sep 9, 2021·JAMA Dermatology·Hsuan Ning WangChun-Bing Chen