title: First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome.
authors.affiliation: INSERM, UMR1163, Laboratory of Genetic Skin Diseases, Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Duchatelet
authors.affiliation: INSERM, UMR1163, Laboratory of Genetic Skin Diseases, Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Miskinyte
authors.affiliation: INSERM, U1002, Laboratory of Microbiology, Necker-Enfants Malades Hospital, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
authors.forename: O
authors.initials: O
authors.lastname: Join-Lambert
authors.affiliation: Institut Pasteur, ICAReB (Clinical Investigation And Research Bioresources) Platform, Paris, France.
authors.forename: M-N
authors.initials: MN
authors.lastname: Ungeheuer
authors.affiliation: Department of Dermatology and Allergology, Tenon Hospital, Pierre et Marie Curie University, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Francès
authors.affiliation: Institut Pasteur, Medical Center, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Nassif
authors.affiliation: NSERM, UMR1163, Laboratory of Genetic Skin Diseases, Department of Genetics, Imagine Institute, Necker-Enfants Malades Hospital, Paris Descartes - Sorbonne Paris Cité University, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Hovnanian
mesh_terms: D000152:Acne Vulgaris / Q000175:diagnosis / Q000235:genetics*; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D001170:Arthritis, Infectious / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D017497:Hidradenitis Suppurativa / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017511:Pyoderma Gangrenosum / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; C486382:PSTPIP1 protein, human; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases