New insights into the immunopathogenesis of systemic lupus erythematosus
GC Tsokos, MS Lo, PC Reis, KE Sullivan - Nature Reviews …, 2016 - nature.com
The aetiology of systemic lupus erythematosus (SLE) is multifactorial, and includes
contributions from the environment, stochastic factors, and genetic susceptibility. Great gains …
contributions from the environment, stochastic factors, and genetic susceptibility. Great gains …
Human RAG mutations: biochemistry and clinical implications
The recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the V (D) J
recombination process, which ultimately enables the generation of T cells and B cells with a …
recombination process, which ultimately enables the generation of T cells and B cells with a …
[HTML][HTML] New horizons in the genetic etiology of systemic lupus erythematosus and lupus-like disease: monogenic lupus and beyond
Systemic lupus erythematosus (SLE) is a clinically and genetically heterogeneous
autoimmune disease. The etiology of lupus and the contribution of genetic, environmental …
autoimmune disease. The etiology of lupus and the contribution of genetic, environmental …
[HTML][HTML] Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
JE Walter, LB Rosen, K Csomos… - The Journal of …, 2015 - Am Soc Clin Investig
Patients with mutations of the recombination-activating genes (RAG) present with diverse
clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity …
clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity …
RAG deficiency: two genes, many diseases
Purpose To review the clinical and laboratory spectrum of RAG gene defects in humans, and
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …
discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune …
Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment
MG Seidel - Blood, The Journal of the American Society of …, 2014 - ashpublications.org
Autoimmunity and immune dysregulation may lead to cytopenia and represent key features
of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial …
of many primary immunodeficiencies (PIDs). Especially when cytopenia is the initial …
[HTML][HTML] Interferon system deficiencies exacerbating severe pandemic virus infections
Pandemics are caused by novel pathogens to which pre-existing antibody immunity is
lacking. Under these circumstances, the body must rely on innate interferon-mediated …
lacking. Under these circumstances, the body must rely on innate interferon-mediated …
[HTML][HTML] T cell receptor β-chains display abnormal shortening and repertoire sharing in type 1 diabetes
Defects in T cell receptor (TCR) repertoire are proposed to predispose to autoimmunity.
Here we show, by analyzing> 2× 108 TCRB sequences of circulating naive, central memory …
Here we show, by analyzing> 2× 108 TCRB sequences of circulating naive, central memory …
[HTML][HTML] Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency
JR Farmer, Z Foldvari, B Ujhazi, SS De Ravin… - The Journal of Allergy …, 2019 - Elsevier
Background Although autoimmunity and hyperinflammation secondary to recombination
activating gene (RAG) deficiency have been associated with delayed diagnosis and even …
activating gene (RAG) deficiency have been associated with delayed diagnosis and even …
[HTML][HTML] Mechanism-based strategies for the management of autoimmunity and immune dysregulation in primary immunodeficiencies
JE Walter, JR Farmer, Z Foldvari, TR Torgerson… - The Journal of Allergy …, 2016 - Elsevier
A broad spectrum of autoimmunity is now well described in patients with primary
immunodeficiencies (PIDs). Management of autoimmune disease in the background of PID …
immunodeficiencies (PIDs). Management of autoimmune disease in the background of PID …