In most cases, the autoantibodies are against the acetylcholine receptor (AChR). Recently, other targets have been described such as the MuSK protein (muscle-specific kinase) or the LRP4 (lipoprotein related protein 4).
Via Alfredo Corell
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AUTOIMMUNITY
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Lymphocyte receptor diversity is generated by recombining variable, diversity, and joining (VDJ) gene segments of the immunoglobulin and T-cell receptor (TCR) loci. V(D)J recombination requires DNA breakage, a process mediated by recombination-activating gene (RAG) 1 and 2. RAG deficiency was initially described in patients with the T−B− severe combined immunodeficiency (SCID) phenotype1; however, the spectrum of the disease has expanded to include Omenn syndrome, cytomegalovirus infection with γδ T-cell expansion, combined immunodeficiency with granuloma, and isolated CD4+ lymphopenia.2, 3, 4, 5, 6 The pleomorphic manifestations of RAG deficiency are partially explained by residual RAG activity, with null mutations producing an SCID phenotype and hypomorphic mutations presenting more variably.2, 7 Although autoimmunity is a known feature of aberrant RAG function, it has never been described as the primary manifestation of the disease in an infant. We describe a novel presentation of RAG deficiency characterized by the presence of B cells and early-onset autoimmunity. Via Alfredo Corell
Gilbert C FAURE's insight:
will help medical students understand the RAG is a useful enzyme 
Alfredo Corell's curator insight,
October 1, 2013 5:55 PM
The Journal of Allergy and Clinical Immunology
Volume 132, Issue 4 , Pages 969-971.e2, October 2013Expanding the spectrum of recombination-activating gene 1 deficiency: A family with early-onset autoimmunityLauren A. Henderson, MD, Francesco Frugoni, MS, Gregory Hopkins, BS, Helen de Boer, BAS, Sung-Yun Pai, MD, Yu Nee Lee, PhD, Jolan E. Walter, MD, PhD, Melissa M. Hazen, MD, Luigi D. Notarangelo, MD published online 26 July 2013. |
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Here we report that proliferation of Treg cells after TCR stimulation is impaired in subjects with relapsing-remitting multiple sclerosis (RRMS) because of altered interleukin-2 (IL-2) secretion and IL-2 receptor (IL-2R)-signal ... Via Krishan Maggon , Alfredo Corell
Alfredo Corell's curator insight,
December 13, 2013 12:42 PM
Original article: http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.3411.html NATURE MEDICINE | LETTER Regulatory T cell proliferative potential is impaired in human autoimmune diseaseFortunata Carbone,Veronica De Rosa,Pietro B Carrieri,Silvana Montella,Dario Bruzzese,Antonio Porcellini,Claudio Procaccini,Antonio La Cava& Giuseppe Matarese
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The pathogenesis of systemic lupus erythematosus—an update Jinyoung Choi1, *,Sang Taek Kim1, *,Joe Craft1, 2, 1 Department of Internal Medicine (Rheumatology), Yale School of Medicine, New Haven, CT 06520, United States2 Department of Immunobiology, Yale School of Medicine, New Haven, CT 06520, United States http://dx.doi.org/10.1016/j.coi.2012.10.004,
Systemic lupus erythematosus (SLE, lupus) is characterized by a global loss of self-tolerance with activation of autoreactive T and B cells leading to production of pathogenic autoantibodies and tissue injury. Innate immune mechanisms are necessary for the aberrant adaptive immune responses in SLE. Recent advances in basic and clinical biology have shed new light on disease mechanisms in lupus, with this review discussing the recent studies that offer valuable insights into disease-specific therapeutic targets.
The pathogenesis of systemic lupus erythematosus—an update [Current Opinion in Immunology—an update] http://t.co/gKMERgRK... Via Alfredo Corell
Gilbert C FAURE's comment,
August 17, 2013 11:26 AM
november 2012, a synthetic review of uptodate hypothesis
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In most cases, the autoantibodies are against the acetylcholine receptor (AChR). Recently, other targets have been described such as the MuSK protein (muscle-specific kinase) or the LRP4 (lipoprotein related protein 4).
Link to the Journal Paper: http://www.sciencedirect.com/science/article/pii/S0896841114000055