Article
A missense mutation underlies defective SOCS4 function in a family with autoimmunity.
Journal of internal medicine - 1 Aug 2015
Arts P, Plantinga T S, van den Berg J M, Gilissen C, Veltman J A, van Trotsenburg A S, van de Veerdonk F L, Kuijpers T W, Hoischen A, Netea M G
Abstract excerpt
OBJECTIVE: The aim of this study was to determine the genetic and immunological defects underlying familial manifestations of an autoimmune disorder. METHODS: Whole-exome sequencing was performed on the index patient with various manifestations of autoimmunity, including hypothyroidism, vitiligo and alopecia. Peripheral blood mononuclear cells and DNA of family members were used for functional and genetic testing...
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