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Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.

Marco M RodariDominique Cazals-HatemMathieu UzzanNicolas Martin SilvaAnis KhiatMinh Chau TaLudovic LhermitteAurore TouzartSylvain HaneinCléa RouillonFrancisca JolyAdrienne ElmorjaniJulie SteffannNadine Cerf-BensussanMarianna ParlatoFabienne Charbit-Henrion
Published in: Journal of clinical immunology (2023)
SOCS1 haploinsufficiency can result in a broad spectrum of intestinal manifestations and need to be considered as differential diagnosis in cases of severe treatment-refractory enteropathies, including the rare condition of lymphocytic leiomyositis. This provides the rationale for genetic screening and considering JAK inhibitors in such cases.
Keyphrases
  • copy number
  • gene expression
  • drug induced