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Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
Sbihi, Zineb; Tanita, Kay; Bachelet, Camille; Bole, Christine; Jabot-Hanin, Fabienne; Tores, Frederic; Le Loch, Marc; Khodr, Radi; Hoshino, Akihiro; Lenoir, Christelle; Oleastro, Matias; Villa, Mariana; Spossito, Lucia; Prieto, Emma; Danielian, Silvia; Brunet, Erika; Picard, Capucine; Taga, Takashi; Abdrabou, Shimaa Said Mohamed Ali; Isoda, Takeshi; Yamada, Masafumi; Palma, Alejandro; Kanegane, Hirokazu; Latour, Sylvain.
Afiliação
  • Sbihi Z; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Tanita K; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
  • Bachelet C; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Bole C; Université de Paris, Paris, France.
  • Jabot-Hanin F; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM UMR 1163, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.
  • Tores F; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM UMR 1163, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.
  • Le Loch M; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Khodr R; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM UMR 1163, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.
  • Hoshino A; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Lenoir C; Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
  • Oleastro M; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Villa M; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Spossito L; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Prieto E; Immunology and Rheumatology Division, Hospital de Pediatria S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
  • Danielian S; Immunology and Rheumatology Division, Hospital de Pediatria S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
  • Brunet E; Immunology and Rheumatology Division, Hospital de Pediatria S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
  • Picard C; Immunology and Rheumatology Division, Hospital de Pediatria S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
  • Taga T; Immunology and Rheumatology Division, Hospital de Pediatria S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
  • Abdrabou SSMA; Laboratory of Dynamic of Genome and Immune System, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Isoda T; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Yamada M; Université de Paris, Paris, France.
  • Palma A; Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, APHP, Paris, France.
  • Kanegane H; Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan.
  • Latour S; Department of Pediatrics, Faculty of Medicine, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
J Clin Immunol ; 42(3): 559-571, 2022 04.
Article em En | MEDLINE | ID: mdl-35000057
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças Genéticas Ligadas ao Cromossomo X / Transtornos Linfoproliferativos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças Genéticas Ligadas ao Cromossomo X / Transtornos Linfoproliferativos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França