Loss of ADAM17 is associated with severe multiorgan dysfunction

Summary 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...

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Veröffentlicht in:	Human pathology 2015-06, Vol.46 (6), p.923-928
Hauptverfasser:	Bandsma, Robert H.J., MD, PhD, van Goor, Harry, PhD, Yourshaw, Michael, PhD, Horlings, Rudolf K., MD, Jonkman, Marcel F., MD, PhD, Schölvinck, Elisabeth H., MD, PhD, Karrenbeld, Arend, MD, PhD, Scheenstra, Rene, MD, PhD, Kömhoff, Martin, MD, PhD, Rump, Patrick, MD, PhD, Koopman-Keemink, Yvonne, MD, Nelson, Stanley F., MD, Escher, Johanna C., MD, PhD, Cutz, Ernest, MD, Martín, Martín G., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	ADAM Proteins - deficiency ADAM17 Protein Age Antibiotics Apoptosis Blood pressure Diarrhea Epidermal growth factor Families & family life Fatal Outcome Female Frameshift Mutation - genetics Genetic Predisposition to Disease Homozygote Humans Hypoxia Infant Kidneys Ligands Lymphocytes Mortality Multiple Organ Failure - etiology Multiple Organ Failure - genetics Nutrition Parenteral nutrition Pathology Proteins Sepsis Siblings Tumor Necrosis Factor-alpha - metabolism
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