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Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Alizadeh, Zahra; Fazlollahi, Mohammad Reza; Mazinani, Marzieh; Badalzadeh, Mohsen; Heydarlou, Hanieh; Carapito, Raphael; Molitor, Anne; de Oteyza, Andrés Caballero Garcia; Proietti, Michele; Bavani, Maryam Soleimani; Shariat, Mansoureh; Fallahpour, Morteza; Movahedi, Masoud; Moradi, Leila; Grimbacher, Bodo; Bahram, Seiamak; Pourpak, Zahra.
Afiliação
  • Alizadeh Z; Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Fazlollahi MR; Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Mazinani M; Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Badalzadeh M; Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Heydarlou H; Department of Medical Biotechnology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
  • Carapito R; Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Molitor A; Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • de Oteyza ACG; Immunology, Asthma & Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
  • Proietti M; Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Bavani MS; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, Strasbourg, France.
  • Shariat M; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France.
  • Fallahpour M; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, Strasbourg, France.
  • Movahedi M; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France.
  • Moradi L; Department of Rheumatology and Clinical Immunology, Hannover Medical School, Hannover, Germany.
  • Grimbacher B; RESIST - Cluster of Excellence 2155, Hannover Medical School, Hannover, Germany.
  • Bahram S; Department of Rheumatology and Clinical Immunology, Hannover Medical School, Hannover, Germany.
  • Pourpak Z; RESIST - Cluster of Excellence 2155, Hannover Medical School, Hannover, Germany.
Genes Immun ; 24(4): 207-214, 2023 08.
Article em En | MEDLINE | ID: mdl-37516813
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male Idioma: En Revista: Genes Immun Assunto da revista: ALERGIA E IMUNOLOGIA / BIOLOGIA MOLECULAR Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Irã
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunodeficiência Combinada Severa Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male Idioma: En Revista: Genes Immun Assunto da revista: ALERGIA E IMUNOLOGIA / BIOLOGIA MOLECULAR Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Irã