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De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.
Kuhlen, Michaela; Hönscheid, Andrea; Loizou, Loizos; Nabhani, Schafiq; Fischer, Ute; Stepensky, Polina; Schaper, Jörg; Klapper, Wolfram; Siepermann, Meinolf; Schuster, Friedhelm; Meisel, Roland; Borkhardt, Arndt.
Afiliación
  • Kuhlen M; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany.
  • Hönscheid A; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany.
  • Loizou L; Pediatric Oncology-Hematology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus.
  • Nabhani S; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany.
  • Fischer U; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany.
  • Stepensky P; Department of Pediatric Hematology-Oncology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Schaper J; University of Duesseldorf, Medical Faculty, Department of Diagnostic and Interventional Radiology, Duesseldorf, Germany.
  • Klapper W; Department of Pathology, Christian-Albrechts-University of Kiel, Kiel, Germany.
  • Siepermann M; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany.
  • Schuster F; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany.
  • Meisel R; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany.
  • Borkhardt A; University of Duesseldorf, Medical Faculty, Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Duesseldorf, Germany. Electronic address: Arndt.Borkhardt@med.uni-duesseldorf.de.
Clin Immunol ; 162: 27-30, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26529633
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Infecciones del Sistema Respiratorio / Infecciones por Citomegalovirus / Fosfatidilinositol 3-Quinasas / Linfadenitis / Microcefalia Límite: Adolescent / Humans / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Infecciones del Sistema Respiratorio / Infecciones por Citomegalovirus / Fosfatidilinositol 3-Quinasas / Linfadenitis / Microcefalia Límite: Adolescent / Humans / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2016 Tipo del documento: Article País de afiliación: Alemania