Article
Loss of ADAM17 is associated with severe multiorgan dysfunction.
Human pathology - 1 Jun 2015
Bandsma Robert H J, van Goor Harry, Yourshaw Michael, Horlings Rudolf K, Jonkman Marcel F, Schölvinck Elisabeth H, Karrenbeld Arend, Scheenstra Rene, Kömhoff Martin, Rump Patrick, Koopman-Keemink Yvonne, Nelson Stanley F, Escher Johanna C, Cutz Ernest, Martín Martín G
Abstract excerpt
ADAM metallopeptidase domain 17 (ADAM17) is responsible for processing large numbers of proteins. Recently, 1 family involving 2 patients with a homozygous mutation in ADAM17 were described, presenting with skin lesions and diarrhea. In this report, we describe a second family confirming the existence of this syndrome. The proband presented with severe diarrhea, skin rash, and recurrent sepsis, eventually leading...
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