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10.1097/MOP.0000000000000029 http://scihub22266oqcxt.onion/10.1097/MOP.0000000000000029 C4047515!4047515 !24240290     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=24240290 &cmd=llinks): Failed to open stream: HTTP request failed! 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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases |pdf=|usr=}}{{24240290 }} gab.com Text Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases JO: Curr Opin Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=24240290 #FOAvip PURPOSE OF REVIEW: To summarize recent progress in our understanding of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders. RECENT FINDINGS: A number of Mendelian disorders of immune dysregulation and autoimmunity have been noted to result from defects in T regulatory cell, development and function. The best characterized of these is IPEX, resulting from mutations affecting FOXP3. A number of other gene defects that affect T regulatory cell function also give rise to IPEX-related phenotypes, including loss-of-function mutations in CD25, STAT5b and ITCH. Recent progress includes the identification of gain-of-function mutations in STAT1 as a cause of an IPEX-like disease, emerging FOXP3?genotype/phenotype relationships in IPEX, and the elucidation of a role for the microbiota in the immune dysregulation associated with regulatory T cell deficiency. SUMMARY: An expanding spectrum of genetic defects that compromise T regulatory cell function underlies human disorders of immune dysregulation and autoimmunity. Collectively, these disorders offer novel insights into pathways of peripheral tolerance and their disruption in autoimmunity. Twit Text FOAVip Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases ????Curr Opin Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=24240290 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24240290 #FOAvip English Wikipedia <ref>{{Cite pmid|24240290 }}</ref> Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases #MMPMID24240290 Verbsky JW ; Chatila TA Curr Opin Pediatr 2013[Dec]; 25 (6 ): 708-14 PMID24240290 show ga PURPOSE OF REVIEW: To summarize recent progress in our understanding of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders. RECENT FINDINGS: A number of Mendelian disorders of immune dysregulation and autoimmunity have been noted to result from defects in T regulatory cell, development and function. The best characterized of these is IPEX, resulting from mutations affecting FOXP3. A number of other gene defects that affect T regulatory cell function also give rise to IPEX-related phenotypes, including loss-of-function mutations in CD25, STAT5b and ITCH. Recent progress includes the identification of gain-of-function mutations in STAT1 as a cause of an IPEX-like disease, emerging FOXP3?genotype/phenotype relationships in IPEX, and the elucidation of a role for the microbiota in the immune dysregulation associated with regulatory T cell deficiency. SUMMARY: An expanding spectrum of genetic defects that compromise T regulatory cell function underlies human disorders of immune dysregulation and autoimmunity. Collectively, these disorders offer novel insights into pathways of peripheral tolerance and their disruption in autoimmunity. |Autoantibodies/immunology [MESH] |Autoimmunity/genetics/immunology [MESH] |Diabetes Mellitus, Type 1/congenital [MESH] |Diarrhea/genetics/*immunology/pathology [MESH] |Female [MESH] |Forkhead Transcription Factors/genetics/*immunology [MESH] |Genetic Diseases, X-Linked/genetics/*immunology/pathology [MESH] |Genetic Predisposition to Disease [MESH] |Humans [MESH] |Immune System Diseases/congenital [MESH] |Immunologic Deficiency Syndromes/genetics/*immunology/pathology [MESH] |Interleukin-2 Receptor alpha Subunit/genetics/*immunology [MESH] |Intestinal Diseases/genetics/*immunology/pathology [MESH] |Male [MESH] |Mutation/genetics [MESH] |Polyendocrinopathies, Autoimmune/genetics/*immunology/pathology [MESH] |Repressor Proteins/genetics/*immunology [MESH] |STAT5 Transcription Factor/genetics/*immunology [MESH] |T-Lymphocytes, Regulatory/*immunology [MESH]Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)(epmc).pdf DeepDyve Pubget Overpricing