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Auto-immune diseases , genetics, HLA, new treatments and auto-immune diseases

Tasha E Fingerlin, Weiming Zhang, Ivana V Yang, Hannah C Ainsworth, Pamela H Russell, Rachel Z Blumhagen, Marvin I Schwarz, Kevin K Brown, Mark P Steele, James E Loyd, Gregory P Cosgrove, David A Lynch, Steve Groshong, Harold R Collard, Paul J Wolters, Williamson Z Bradford, Karl Kossen, Scott D Seiwert, Roland M du Bois, Christine Kim Garcia, Megan S Devine, Gunnar Gudmundsson, Helgi J Isaksson, Naftali Kaminski, Yingze Zhang, Kevin F Gibson, Lisa H Lancaster, Toby M Maher, Philip L Molyneaux, Athol U Wells, Miriam F Moffatt, Moises Selman, Annie Pardo, Dong Soon Kim, James D Crapo, Barry J Make, Elizabeth A Regan, Dinesha S Walek, Jerry J Daniel, Yoichiro Kamatani, Diana Zelenika, Elissa Murphy, Keith Smith, David McKean, Brent S Pedersen, Janet Talbert, Julia Powers, Cheryl R Markin, Kenneth B Beckman, Mark Lathrop, Brian Freed, Carl D Langefeld, David A Schwartz
BACKGROUND: Fibrotic idiopathic interstitial pneumonias (fIIP) are a group of fatal lung diseases with largely unknown etiology and without definitive treatment other than lung transplant to prolong life. There is strong evidence for the importance of both rare and common genetic risk alleles in familial and sporadic disease. We have previously used genome-wide single nucleotide polymorphism data to identify 10 risk loci for fIIP. Here we extend that work to imputed genome-wide genotypes and conduct new RNA sequencing studies of lung tissue to identify and characterize new fIIP risk loci...
2016: BMC Genetics
M Khairallah, S Ben Yahia, R Kahloun, I Khairallah-Ksiaa, R Messaoud
Behçet's disease (BD) is a systemic inflammatory disorder for which the underlying histopathology is an occlusive vasculitis. This disease is more common in the Mediterranean region, the middle east and the far east. It is characterized by oral and genital ulcerations, ocular inflammatory involvement, skin lesions, vascular involvement and numerous systemic manifestations that may affect mortality. The pathogenesis of the disease still remains poorly characterized, although infectious, genetic (HLA-B51 antigen polymorphism), and environmental factors have been implicated...
December 2012: Journal Français D'ophtalmologie
Anne Galy, Adrian J Thrasher
BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency (PID) characterized by micro-thrombocytopenia, recurrent infections, eczema, which is associated with a high incidence of auto-immunity and lymphoreticular malignancy. One of the first diseases to be successfully treated by allogeneic hematopoietic stem cell transplantation, WAS is currently the subject of several phase I/II gene therapy trials for patients without HLA-compatible donors. PURPOSE OF REVIEW: This article reviews the preclinical and clinical data leading to the development of gene therapy of WAS with lentiviral vectors...
December 2011: Current Opinion in Allergy and Clinical Immunology
Mandana Nikpour, Wendy M Stevens, Ariane L Herrick, Susanna M Proudman
Systemic sclerosis (SSc) is a multisystem auto-immune disease. The two main subtypes of SSc (limited and diffuse) typically have differing courses and prognoses. New classification criteria have been proposed to identify SSc in the earliest stages, before skin involvement. Over the past three decades, there has been an apparent increase in the incidence of SSc to approximately 20 per million, possibly due to improved diagnosis. The most extensively studied environmental associations of SSc are organic solvents and silica but no single risk factor has emerged...
December 2010: Best Practice & Research. Clinical Rheumatology
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