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-gene defect causing a systemic human autoimmune disease , providing a tool for exploring the molecular basis of autoimmunity . © 1997 Nature Publishing Group http://www.nature.com/naturegenetics article ...
this novel concept to rheumatic diseases , which have been linked to hundreds of genetic variants via association studies. These variants are in the ‘grey zone’ between monogenic variants with large effect ...
A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed ...
) identification of genes in rare human diseases with a strong autoimmune component or (ii) unravelling loci causing phenotypes resembling autoimmune diseases in inbred mice strains. Autoimmune polyendocrinopathy ...
of monogenic type 1 diabetes (T1D) help establish direct mechanisms driving this complex autoimmune disease . A recently identified de novo germline gain-of-function (GOF) mutation in the transcriptional ...
is a rare autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene which encodes the high affinity thiamine transporter, human thiamine transporter 1(h‐THTR1). In addition ...
Objective Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that is assumed to occur via a complex interplay of environmental and genetic factors. Rare causes of monogenic SLE have ...
Sir, We read with interest the article by Papadopoulou et al. describing monogenic mimics of early onset Behçet disease (BD) in 11 children, who presented with known disease - causing genetic mutations ...
: about 25% of patients have autoimmune disease , allergy is prevalent, and up to 10% develop lymphoid malignancies1–3. Consequently, in sporadic PID genetic diagnosis is difficult and the role of genetics ...
) identification of genes in rare human diseases with a strong autoimmune component or (ii) unravelling loci causing phenotypes resembling autoimmune diseases in inbred mice strains. Autoimmune polyendocrinopathy ...
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