Ontology highlight
ABSTRACT:
SUBMITTER: McAleer MA
PROVIDER: S-EPMC4649901 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
McAleer Maeve A MA Pohler Elizabeth E Smith Frances J D FJ Wilson Neil J NJ Cole Christian C MacGowan Stuart S Koetsier Jennifer L JL Godsel Lisa M LM Harmon Robert M RM Gruber Robert R Crumrine Debra D Elias Peter M PM McDermott Michael M Butler Karina K Broderick Annemarie A Sarig Ofer O Sprecher Eli E Green Kathleen J KJ McLean W H Irwin WH Irvine Alan D AD
The Journal of allergy and clinical immunology 20150612 5
<h4>Background</h4>Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To date, only 3 families have been reported.<h4>Objective</h4>We studied a new case of SAM syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic, immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular mechanisms in this rare genodermatosis.<h4>Methods</ ...[more]