Incontinentia pigmenti.

Autor: Rosser T; Children's Hospital Los Angeles, Division of Neurology, 46450 Sunset Blvd, MS#82, Los Angeles, CA 90027, USA. Electronic address: trosser@chla.usc.edu.

Publikováno v: Seminars in pediatric neurology [Semin Pediatr Neurol] 2024 Oct; Vol. 51, pp. 101156. Date of Electronic Publication: 2024 Sep 12.

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

Autor: Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France., Liu X; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Polivka L; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France.; Reference Center for Mastocytosis (CEREMAST), Necker Hospital for Sick Children, AP-HP , Paris, France., Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden., Berteloot L; Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France., Parent AV; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Pescatore A; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Spinosa E; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Minic S; Clinics of Dermatovenerology, Clinical Center of Serbia , Belgrade, Serbia.; School of Medicine, University of Belgrade , Belgrade, Serbia., Kiszewski AE; Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.; Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil., Tsumura M; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Thibault C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Esnaola Azcoiti M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Martinovic J; Unit of Fetal Pathology, Hospital Antoine Béclère, Paris Saclay University , Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Khan T; Department of Immunology, Sidra Medicine, Doha, Qatar., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Charmeteau-De Muylder B; University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Hadjem L; Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France., Fauvarque MO; University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France., Dorgham K; Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France., Eriksson D; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Falcone EL; Center for Immunity, Inflammation and Infectious Diseases, Montréal Clinical Research Institute (IRCM) , Montréal, Canada.; Department of Medicine, Montréal University, Montréal, Canada., Puel M; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Ünal S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Geraldo A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Le Floc'h C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Li H; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Rheault S; Department of Medicine, Montréal University, Montréal, Canada.; Center of Research of the Geriatric University Institute of Montréal, University of Montréal , Montréal, Canada., Muti C; Department of Genetics, André Mignot Hospital, Versailles, France., Bobrie-Moyrand C; Department of Obstetrics and Gynecology, André Mignot Hospital, Versailles, France., Welfringer-Morin A; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France., Fuleihan RL; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA., Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France., Roelens M; Imagine Institute, University of Paris Cité , Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Gao L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Pellegrini S; Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy., Piemonti L; Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy., Catherinot E; Department of Respiratory Diseases, Foch Hospital, Suresnes, France., Goffard JC; Internal Medicine, Brussels University Hospital, Free University of Brussels, Anderlecht, Belgium., Fekkar A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; Department of Parasitology Mycology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France., Sacko-Sow A; Department of Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Boucherit S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Has C; Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany.; European Reference Network (ERN) for Rare and Undiagnosed Skin Disorders., Hübner S; Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany., Blanchard-Rohner G; Unit of Immunology, Vaccinology, and Rheumatology, Division of General Pediatrics, Department of Woman, Child, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland., Amador-Borrero B; Internal Medicine Department, Lariboisière Hospital, AP-HP, University of Paris Cité, Paris, France., Utsumi T; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Taniguchi M; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Tani H; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.; Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan., Izawa K; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kanai S; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France., Aubart M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France., Lambert N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Gorochov G; Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France.; Department of Immunology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France., Picard C; Imagine Institute, University of Paris Cité , Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France., Soudais C; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France., L'Honneur AS; Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France., Rozenberg F; Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France., Milner JD; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Vabres P; MAGEC Reference Center for Rare Skin Diseases, Dijon Bourgogne University Hospital, Dijon, France., Trpinac D; Institute of Histology and Embryology, School of Medicine, University of Belgrade , Belgrade, Serbia., Marr N; Department of Immunology, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University , Doha, Qatar., Boddaert N; Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France., Desguerre I; Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France., Pasparakis M; Institute for Genetics, University of Cologne , Cologne, Germany., Miller CN; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Poziomczyk CS; Private Dermatology Practice , Porto Alegre, Brazil., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Okada S; Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cheynier R; University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Steffann J; Department of Genomic Medicine, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France., Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Ursini MV; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso,' IGB-CNR , Naples, Italy., Hadj-Rabia S; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France., Bodemer C; Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France., Luche H; Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Courtois G; University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France., Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Anderson MS; Diabetes Center, University of California San Francisco , San Francisco, CA, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute , New York, NY, USA.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2024 Nov 04; Vol. 221 (11). Date of Electronic Publication: 2024 Oct 01.

Unilateral Retinopathy from Incontinentia Pigmenti.

Autor: Ramachandran N; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada., Benson MD; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada., Grewal PS; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.

Publikováno v: Ophthalmology. Retina [Ophthalmol Retina] 2024 Sep; Vol. 8 (9), pp. e8. Date of Electronic Publication: 2024 Mar 08.

Incontinentia Pigmenti in a Newborn.

Autor: Neuhouser AJ; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota., Montezuma SR; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.

Publikováno v: Ophthalmology. Retina [Ophthalmol Retina] 2024 Oct; Vol. 8 (10), pp. e29. Date of Electronic Publication: 2024 Mar 23.

Ultrawidefield OCT Angiography of Incontinentia Pigmenti with Macular Hole.

Autor: Guo Y; Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases, Zhejiang Provincial Engineering Institute on Eye Diseases, Hangzhou, Zhejiang, China., Zheng F; Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases, Zhejiang Provincial Engineering Institute on Eye Diseases, Hangzhou, Zhejiang, China., Zhang L; Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Zhejiang Provincial Key Laboratory of Ophthalmology, Zhejiang Provincial Clinical Research Center for Eye Diseases, Zhejiang Provincial Engineering Institute on Eye Diseases, Hangzhou, Zhejiang, China.

Publikováno v: Ophthalmology. Retina [Ophthalmol Retina] 2024 Aug; Vol. 8 (8), pp. e1. Date of Electronic Publication: 2024 Feb 10.