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10.1182/blood-2014-04-571265 http://scihub22266oqcxt.onion/10.1182/blood-2014-04-571265 C4260362!4260362 !25139357     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25139357 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\25139357 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Blood 2014 ; 124 (13 ): 2046-50 Nephropedia Template TP {{tp|p=25139357 |t=2014. A nonsense mutation in IKBKB causes combined immunodeficiency |pdf=|usr=}}{{25139357 }} gab.com Text A nonsense mutation in IKBKB causes combined immunodeficiency JO: Blood http://www.kidney.de/pget.php?&tw=1&pmid=25139357 #FOAvip Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineous Qatari families with similar clinical and immunologic phenotypes. The patients presented at an early age with fungal, viral, and bacterial infections and hypogammaglobulinemia. Although their B- and T-cell numbers were normal, they had low regulatory T-cell and NK-cell numbers. Moreover, patients' T cells were mostly CD45RA(+)-naive cells and were defective in activation after T-cell receptor stimulation. All patients contained the same homozygous nonsense mutation in IKBKB (R286X), revealed by whole-exome sequencing with undetectable IKK? and severely decreased NEMO proteins. Mutant IKK?(R286X) was unable to complex with IKK?/NEMO. Immortalized patient B cells displayed impaired I?B? phosphorylation and NF?B nuclear translocation. These data indicate that mutated IKBKB is the likely cause of immunodeficiency in these 4 patients. Twit Text FOAVip A nonsense mutation in IKBKB causes combined immunodeficiency ????Blood http://www.kidney.de/pget.php?&tw=1&pmid=25139357 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25139357 #FOAvip English Wikipedia <ref>{{Cite pmid|25139357 }}</ref> A nonsense mutation in IKBKB causes combined immunodeficiency #MMPMID25139357 Mousallem T ; Yang J ; Urban TJ ; Wang H ; Adeli M ; Parrott RE ; Roberts JL ; Goldstein DB ; Buckley RH ; Zhong XP Blood 2014[Sep]; 124 (13 ): 2046-50 PMID25139357 show ga Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineous Qatari families with similar clinical and immunologic phenotypes. The patients presented at an early age with fungal, viral, and bacterial infections and hypogammaglobulinemia. Although their B- and T-cell numbers were normal, they had low regulatory T-cell and NK-cell numbers. Moreover, patients' T cells were mostly CD45RA(+)-naive cells and were defective in activation after T-cell receptor stimulation. All patients contained the same homozygous nonsense mutation in IKBKB (R286X), revealed by whole-exome sequencing with undetectable IKK? and severely decreased NEMO proteins. Mutant IKK?(R286X) was unable to complex with IKK?/NEMO. Immortalized patient B cells displayed impaired I?B? phosphorylation and NF?B nuclear translocation. These data indicate that mutated IKBKB is the likely cause of immunodeficiency in these 4 patients. |*Codon, Nonsense [MESH] |Family [MESH] |Female [MESH] |Homozygote [MESH] |Humans [MESH] |I-kappa B Kinase/*genetics [MESH] |Infant [MESH] |Male [MESH] |Severe Combined Immunodeficiency/diagnosis/*genetics/*immunology/therapy [MESH]A nonsense mutation in IKBKB causes combined immunodeficiency (epmc).pdf DeepDyve Pubget Overpricing