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10.1084/jem.20141130

http://scihub22266oqcxt.onion/10.1084/jem.20141130
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C4451137!4451137!26008899
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suck abstract from ncbi


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pmid26008899      J+Exp+Med 2015 ; 212 (6): 939-51
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  • 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 PMID26008899show ga
  • Boisson et al. report a human homozygous mutation of HOIP, the gene encoding the catalytic component of the linear ubiquitination chain assembly complex, LUBAC. The missense alleles impair the expression of HOIP, destabilizing the LUBAC complex and resulting in immune cell dysfunction leading to multiorgan inflammation, combined immunodeficiency, subclinical amylopectinosis, and systemic lymphangiectactasia.
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