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10.1016/j.jaci.2013.11.018 http://scihub22266oqcxt.onion/10.1016/j.jaci.2013.11.018 C3972286!3972286!24406074     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=24406074&cmd=llinks): Failed to open stream: HTTP request failed! 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Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development |pdf=|usr=}}{{24406074}} gab.com Text Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development JO: J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=24406074 #FOAvip Background: Human immunodeficiencies characterized by hypomorphic mutations in critical developmental and signaling pathway genes allow for the dissection of the role of these genes in the development of the T-cell receptor (TCR) repertoire and the correlation of alterations of the TCR repertoire with diverse clinical phenotypes. Objective: The presence of T cells in patients with Omenn syndrome (OS) and patients with atypical presentations of severe combined immunodeficiency gene mutations presents an opportunity to study the effects of the causal genes on TCR repertoires and provides a window into the clinical heterogeneity observed. Methods: We performed deep sequencing of TCR? complementarity-determining region 3 (CDR3) regions in subjects with a series of immune dysregulatory conditions caused by mutations in recombination activating gene 1/2 (RAG 1/2), IL-2 receptor ? (IL2RG), and ? chain?associated protein kinase 70 (ZAP70); a patient with atypical DiGeorge syndrome; and healthy control subjects. Results: We found that patients with OS had marked reductions in TCR? diversity compared with control subjects, as expected. Patients with atypical presentations of RAG or IL2RG mutations associated with autoimmunity and granulomatous disease did not have altered overall diversity but instead had skewed V-J pairing and skewed CDR3 amino acid use. Although germline TCRs were more abundant and clonally expanded in patients with OS, nongermline sequences were expanded as well. TCR? from patients with RAG mutations had less junctional diversity and smaller CDR3s than patients with OS caused by other gene mutations and healthy control subjects but relatively similar CDR3 amino acid use. Conclusions: High-throughput TCR sequencing of rare immune disorders has demonstrated that quantitative TCR diversity can appear normal despite qualitative changes in repertoire and strongly suggests that in human subjects RAG enzymatic function might be necessary for normal CDR3 junctional diversity. Twit Text FOAVip Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development ????J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=24406074 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24406074 #FOAvip English Wikipedia <ref>{{Cite pmid|24406074}}</ref> Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development #MMPMID24406074 Yu X; Almeida J; Darko S; van der Burg M; DeRavin SS; Malech H; Gennery A; Chinn I; Markert ML; Douek DC; Milner JD J Allergy Clin Immunol 2014[Apr]; 133 (4): 1109-1115.e14 PMID24406074show ga Background: Human immunodeficiencies characterized by hypomorphic mutations in critical developmental and signaling pathway genes allow for the dissection of the role of these genes in the development of the T-cell receptor (TCR) repertoire and the correlation of alterations of the TCR repertoire with diverse clinical phenotypes. Objective: The presence of T cells in patients with Omenn syndrome (OS) and patients with atypical presentations of severe combined immunodeficiency gene mutations presents an opportunity to study the effects of the causal genes on TCR repertoires and provides a window into the clinical heterogeneity observed. Methods: We performed deep sequencing of TCR? complementarity-determining region 3 (CDR3) regions in subjects with a series of immune dysregulatory conditions caused by mutations in recombination activating gene 1/2 (RAG 1/2), IL-2 receptor ? (IL2RG), and ? chain?associated protein kinase 70 (ZAP70); a patient with atypical DiGeorge syndrome; and healthy control subjects. Results: We found that patients with OS had marked reductions in TCR? diversity compared with control subjects, as expected. Patients with atypical presentations of RAG or IL2RG mutations associated with autoimmunity and granulomatous disease did not have altered overall diversity but instead had skewed V-J pairing and skewed CDR3 amino acid use. Although germline TCRs were more abundant and clonally expanded in patients with OS, nongermline sequences were expanded as well. TCR? from patients with RAG mutations had less junctional diversity and smaller CDR3s than patients with OS caused by other gene mutations and healthy control subjects but relatively similar CDR3 amino acid use. Conclusions: High-throughput TCR sequencing of rare immune disorders has demonstrated that quantitative TCR diversity can appear normal despite qualitative changes in repertoire and strongly suggests that in human subjects RAG enzymatic function might be necessary for normal CDR3 junctional diversity. �Human syndromes of immunodeficiency and dysregulation are characterize(epmc).pdf DeepDyve Pubget Overpricing