Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1007/s10875-018-0584-x http://scihub22266oqcxt.onion/10.1007/s10875-018-0584-x 30685859!ä!30685859 Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=30685859&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 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Clin+Immunol 2019 ; 39 (1): 118-125 Nephropedia Template TP {{tp|p=30685859|t=2019. TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia |pdf=|usr=}}{{30685859}} gab.com Text TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia JO: J Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=30685859 #FOAvip PURPOSE: Cryofibrinogenemia is a rare cryopathy presenting as acrocyanosis following exposure to cold. Familial presentation has been described but the underlying molecular cause remained undetermined. METHODS: Forty (40) members from a large family with an initial diagnosis of familial cryofibrinogenemia were interviewed and examined to determine affected status and collect DNA. Exome sequencing was performed on three affected individuals from distinct branches of the pedigree. RESULTS: Seventeen (17) family members reported a history of acrocyanosis with cold exposure. None reported symptoms were suggestive of lupus. Exome sequencing of three subjects identified the heterozygous mutation D18N in the TREX1 gene which was then confirmed by Sanger sequencing in all affected as well as 2 unaffected family members. The mutation is already being associated with familial chilblain lupus erythematosus (CHLE), and a systematic review of literature was undertaken to compare reports of familial CHLE and cryofibrinogenemia. Both entities were found to share highly similar clinical presentations suggesting they are part of a same syndrome in which cryofibrinogenemia and lupus manifestations have variable penetrance. CONCLUSIONS: Familial cryofibrinogenemia without lupus should be added to the spectrum of TREX1-related disease. Twit Text FOAVip TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia ????J Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=30685859 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30685859 #FOAvip English Wikipedia <ref>{{Cite pmid|30685859}}</ref> TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia #MMPMID30685859 Paradis C; Cadieux-Dion M; Meloche C; Gravel M; Paradis J; Des Roches A; Leclerc G; Cossette P; Begin P J Clin Immunol 2019[Jan]; 39 (1): 118-125 PMID30685859show ga PURPOSE: Cryofibrinogenemia is a rare cryopathy presenting as acrocyanosis following exposure to cold. Familial presentation has been described but the underlying molecular cause remained undetermined. METHODS: Forty (40) members from a large family with an initial diagnosis of familial cryofibrinogenemia were interviewed and examined to determine affected status and collect DNA. Exome sequencing was performed on three affected individuals from distinct branches of the pedigree. RESULTS: Seventeen (17) family members reported a history of acrocyanosis with cold exposure. None reported symptoms were suggestive of lupus. Exome sequencing of three subjects identified the heterozygous mutation D18N in the TREX1 gene which was then confirmed by Sanger sequencing in all affected as well as 2 unaffected family members. The mutation is already being associated with familial chilblain lupus erythematosus (CHLE), and a systematic review of literature was undertaken to compare reports of familial CHLE and cryofibrinogenemia. Both entities were found to share highly similar clinical presentations suggesting they are part of a same syndrome in which cryofibrinogenemia and lupus manifestations have variable penetrance. CONCLUSIONS: Familial cryofibrinogenemia without lupus should be added to the spectrum of TREX1-related disease. |Adult[MESH] |Chilblains/genetics[MESH] |Cryoglobulinemia/*genetics[MESH] |DNA/genetics[MESH] |Exodeoxyribonucleases/*genetics[MESH] |Female[MESH] |Genetic Predisposition to Disease/genetics[MESH] |Heterozygote[MESH] |Humans[MESH] |Lupus Erythematosus, Cutaneous/genetics[MESH] |Lupus Erythematosus, Systemic/genetics[MESH] |Male[MESH] |Mutation/genetics[MESH] |Pedigree[MESH]TREX-1-Related Disease Associated with the Presence of Cryofibrinogene(epmc).pdf DeepDyve Pubget Overpricing