Your browser doesn't support javascript.
loading
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi, Atfa; Lazaroski, Sandra; Wu, Gang; Haslam, Stuart M; Fliegauf, Manfred; Mellouli, Fethi; Patiroglu, Turkan; Unal, Ekrem; Ozdemir, Mehmet Akif; Jouhadi, Zineb; Khadir, Khadija; Ben-Khemis, Leila; Ben-Ali, Meriem; Ben-Mustapha, Imen; Borchani, Lamia; Pfeifer, Dietmar; Jakob, Thilo; Khemiri, Monia; Asplund, A Charlotta; Gustafsson, Manuela O; Lundin, Karin E; Falk-Sörqvist, Elin; Moens, Lotte N; Gungor, Hatice Eke; Engelhardt, Karin R; Dziadzio, Magdalena; Stauss, Hans; Fleckenstein, Bernhard; Meier, Rebecca; Prayitno, Khairunnadiya; Maul-Pavicic, Andrea; Schaffer, Sandra; Rakhmanov, Mirzokhid; Henneke, Philipp; Kraus, Helene; Eibel, Hermann; Kölsch, Uwe; Nadifi, Sellama; Nilsson, Mats; Bejaoui, Mohamed; Schäffer, Alejandro A; Smith, C I Edvard; Dell, Anne; Barbouche, Mohamed-Ridha; Grimbacher, Bodo.
Afiliación
  • Sassi A; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Pasteur Institute of Tunis and University Tunis El Manar, Tunis, Tunisia.
  • Lazaroski S; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Wu G; Department of Life Sciences, Imperial College London, London, United Kingdom.
  • Haslam SM; Department of Life Sciences, Imperial College London, London, United Kingdom.
  • Fliegauf M; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Mellouli F; Pediatrics Department, Bone Marrow Transplantation Center, Tunis, Tunisia.
  • Patiroglu T; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Unal E; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Ozdemir MA; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Jouhadi Z; Department of Pediatric Infectious Diseases, CHU IBN ROCHD, Hassan II University, Casablanca, Morocco.
  • Khadir K; Department of Pediatric Infectious Diseases, CHU IBN ROCHD, Hassan II University, Casablanca, Morocco.
  • Ben-Khemis L; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Pasteur Institute of Tunis and University Tunis El Manar, Tunis, Tunisia.
  • Ben-Ali M; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Pasteur Institute of Tunis and University Tunis El Manar, Tunis, Tunisia.
  • Ben-Mustapha I; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Pasteur Institute of Tunis and University Tunis El Manar, Tunis, Tunisia.
  • Borchani L; Laboratory of Venoms and Therapeutic Molecules, Institut Pasteur de Tunis, Tunis, Tunisia.
  • Pfeifer D; Department of Medicine I, Specialties: Hematology, Oncology, and Stem-Cell Transplantation, University Medical Center Freiburg, Freiburg, Germany.
  • Jakob T; Allergy Research Group, Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
  • Khemiri M; Pediatrics Department A, Children's Hospital of Tunis, Tunis, Tunisia.
  • Asplund AC; Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden.
  • Gustafsson MO; Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden.
  • Lundin KE; Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden.
  • Falk-Sörqvist E; Department of Immunology, Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Uppsala, Sweden.
  • Moens LN; Department of Immunology, Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Uppsala, Sweden.
  • Gungor HE; Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Engelhardt KR; Royal Free Hospital, Institute of Immunity & Transplantation, University College London, London, United Kingdom.
  • Dziadzio M; Royal Free Hospital, Institute of Immunity & Transplantation, University College London, London, United Kingdom.
  • Stauss H; Royal Free Hospital, Institute of Immunity & Transplantation, University College London, London, United Kingdom.
  • Fleckenstein B; Institute of Virology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Meier R; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Prayitno K; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Maul-Pavicic A; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Schaffer S; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Rakhmanov M; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Henneke P; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Kraus H; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Eibel H; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.
  • Kölsch U; Division of Immunology, Labor Berlin and Institute of Medical Immunology, Charité, Campus Virchow Klinikum, Berlin, Germany.
  • Nadifi S; Department of Genetics, Hassan II University, Casablanca, Morocco.
  • Nilsson M; Department of Immunology, Genetics and Pathology, Uppsala University, Rudbeck Laboratory, Uppsala, Sweden.
  • Bejaoui M; Pediatrics Department, Bone Marrow Transplantation Center, Tunis, Tunisia.
  • Schäffer AA; National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, Md.
  • Smith CI; Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden.
  • Dell A; Department of Life Sciences, Imperial College London, London, United Kingdom.
  • Barbouche MR; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Pasteur Institute of Tunis and University Tunis El Manar, Tunis, Tunisia.
  • Grimbacher B; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany; Royal Free Hospital, Institute of Immunity & Transplantation, University College London, London, United Kingdom. Electronic address: bodo.grimbacher@uniklinik-freiburg.de.
J Allergy Clin Immunol ; 133(5): 1410-9, 1419.e1-13, 2014 May.
Article en En | MEDLINE | ID: mdl-24698316

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Cromosomas Humanos Par 6 / Inmunoglobulina E / Mutación Missense / Enfermedades Genéticas Congénitas / Homocigoto / Inmunidad / Síndrome de Job Tipo de estudio: Clinical_trials Límite: Adult / Child / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Año: 2014 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Cromosomas Humanos Par 6 / Inmunoglobulina E / Mutación Missense / Enfermedades Genéticas Congénitas / Homocigoto / Inmunidad / Síndrome de Job Tipo de estudio: Clinical_trials Límite: Adult / Child / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Año: 2014 Tipo del documento: Article