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10.1038/cti.2017.20 http://scihub22266oqcxt.onion/10.1038/cti.2017.20 C5493589!5493589!28690850     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Clin+Transl+Immunology 2017 ; 6 (5): e144- Nephropedia Template TP {{tp|p=28690850|t=2017. Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation |pdf=|usr=}}{{28690850}} gab.com Text Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation JO: Clin Transl Immunology http://www.kidney.de/pget.php?&tw=1&pmid=28690850 #FOAvip Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 diabetes, autoimmune haematological cytopenia, recurrent chest infections and lymphocytic interstitial lung disease. The patient was treated with CTLA4-Ig (abatacept) with good outcome every 2 weeks for a period of 3 months. He developed complete IgG deficiency, but remarkably, histological examination revealed germinal centres and plasma cells in lymphoid and inflamed lung tissue. Further charatecterisation showed these cells to express IgM but not IgG. This ex vivo analysis suggests that LRBA mutation confers a defect in class switching despite plasma cell formation. Twit Text FOAVip Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation ????Clin Transl Immunology http://www.kidney.de/pget.php?&tw=1&pmid=28690850 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28690850 #FOAvip English Wikipedia <ref>{{Cite pmid|28690850}}</ref> Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation #MMPMID28690850 Al Sukaiti N; AbdelRahman K; AlShekaili J; Al Oraimi S; Al Sinani A; Al Rahbi N; Cho V; Field M; Cook MC Clin Transl Immunology 2017[May]; 6 (5): e144- PMID28690850show ga Mutations in lipopolysaccharide-responsive vesicle trafficking, beach and anchor-containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7-year-old Omani boy, born to consanguineous parents. He presented with type 1 diabetes, autoimmune haematological cytopenia, recurrent chest infections and lymphocytic interstitial lung disease. The patient was treated with CTLA4-Ig (abatacept) with good outcome every 2 weeks for a period of 3 months. He developed complete IgG deficiency, but remarkably, histological examination revealed germinal centres and plasma cells in lymphoid and inflamed lung tissue. Further charatecterisation showed these cells to express IgM but not IgG. This ex vivo analysis suggests that LRBA mutation confers a defect in class switching despite plasma cell formation. äAgammaglobulinaemia despite terminal B-cell differentiation in a patie(epmc).pdf DeepDyve Pubget Overpricing