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10.1084/jem.20141130 http://scihub22266oqcxt.onion/10.1084/jem.20141130 C4451137!4451137 !26008899     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 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 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\26008899 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Exp+Med 2015 ; 212 (6 ): 939-51 Nephropedia Template TP {{tp|p=26008899 |t=2015. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia |pdf=|usr=}}{{26008899 }} gab.com Text Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia JO: J Exp Med http://www.kidney.de/pget.php?&tw=1&pmid=26008899 #FOAvip Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and molecular analysis of a novel inherited disorder of the human LUBAC complex. A patient with multiorgan autoinflammation, combined immunodeficiency, subclinical amylopectinosis, and systemic lymphangiectasia, is homozygous for a mutation in HOIP, the gene encoding the catalytic component of LUBAC. The missense allele (L72P, in the PUB domain) is at least severely hypomorphic, as it impairs HOIP expression and destabilizes the whole LUBAC complex. Linear ubiquitination and NF-?B activation are impaired in the patient's fibroblasts stimulated by IL-1? or TNF. In contrast, the patient's monocytes respond to IL-1? more vigorously than control monocytes. However, the activation and differentiation of the patient's B cells are impaired in response to CD40 engagement. These cellular and clinical phenotypes largely overlap those of HOIL-1-deficient patients. Clinical differences between HOIL-1- and HOIP-mutated patients may result from differences between the mutations, the loci, or other factors. Our findings show that human HOIP is essential for the assembly and function of LUBAC and for various processes governing inflammation and immunity in both hematopoietic and nonhematopoietic cells. Twit Text FOAVip Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia ????J Exp Med http://www.kidney.de/pget.php?&tw=1&pmid=26008899 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26008899 #FOAvip English Wikipedia <ref>{{Cite pmid|26008899 }}</ref> Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia #MMPMID26008899 Boisson B ; Laplantine E ; Dobbs K ; Cobat A ; Tarantino N ; Hazen M ; Lidov HG ; Hopkins G ; Du L ; Belkadi A ; Chrabieh M ; Itan Y ; Picard C ; Fournet JC ; Eibel H ; Tsitsikov E ; Pai SY ; Abel L ; Al-Herz W ; Casanova JL ; Israel A ; Notarangelo LD J Exp Med 2015[Jun]; 212 (6 ): 939-51 PMID26008899 show ga Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and molecular analysis of a novel inherited disorder of the human LUBAC complex. A patient with multiorgan autoinflammation, combined immunodeficiency, subclinical amylopectinosis, and systemic lymphangiectasia, is homozygous for a mutation in HOIP, the gene encoding the catalytic component of LUBAC. The missense allele (L72P, in the PUB domain) is at least severely hypomorphic, as it impairs HOIP expression and destabilizes the whole LUBAC complex. Linear ubiquitination and NF-?B activation are impaired in the patient's fibroblasts stimulated by IL-1? or TNF. In contrast, the patient's monocytes respond to IL-1? more vigorously than control monocytes. However, the activation and differentiation of the patient's B cells are impaired in response to CD40 engagement. These cellular and clinical phenotypes largely overlap those of HOIL-1-deficient patients. Clinical differences between HOIL-1- and HOIP-mutated patients may result from differences between the mutations, the loci, or other factors. Our findings show that human HOIP is essential for the assembly and function of LUBAC and for various processes governing inflammation and immunity in both hematopoietic and nonhematopoietic cells. |*Gene Expression Regulation [MESH] |Alleles [MESH] |Amino Acid Sequence [MESH] |CD40 Ligand/metabolism [MESH] |Catalysis [MESH] |Female [MESH] |Fibroblasts/metabolism [MESH] |Genetic Complementation Test [MESH] |Germ-Line Mutation [MESH] |Glycogen Storage Disease Type IV/pathology [MESH] |Homozygote [MESH] |Humans [MESH] |Immunologic Deficiency Syndromes/pathology [MESH] |Inflammation [MESH] |Lymphangiectasis/pathology [MESH] |Monocytes/metabolism [MESH] |Mutation, Missense [MESH] |NF-kappa B/metabolism [MESH] |Sequence Homology, Amino Acid [MESH] |Transcription Factors [MESH] |Ubiquitin-Protein Ligases/*deficiency/genetics [MESH] |Ubiquitin/chemistry [MESH]Human HOIP and LUBAC deficiency underlies autoinflammation, immunodefi(epmc).pdf DeepDyve Pubget Overpricing