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  1. AU="Giorgia Bucciol"
  2. AU="Ronald Munger"
  3. AU="Quotane, Ilyasse"
  4. AU="Tairmae Kangarloo"
  5. AU="Khan, Qaisar Imran"
  6. AU="Alberton, Michele D"
  7. AU="Chou, Tsung-Ching"
  8. AU="Mehdizadeh, Rana"
  9. AU="Sue Chen"
  10. AU=Smrcka A V
  11. AU="Costache, Oana"
  12. AU="Jungilligens, Johannes"
  13. AU="Kegel, S"
  14. AU="Frances P. Rodriguez-Rivera"
  15. AU="Viennet, Hervé"
  16. AU="Martínez-Silva, María G"
  17. AU="Christino, Melissa A"
  18. AU="Silva, Larissa L"
  19. AU="Tonks, Michael R."
  20. AU="Korhonen, H"
  21. AU="Mukendi, John T"
  22. AU="Athira S. Raj"
  23. AU="Corbacho, Belen"
  24. AU="Andrei, Adin Cristian" AU="Andrei, Adin Cristian"
  25. AU="Erminia Donnarumma"
  26. AU="Albores-Figueroa, Rosenberg"
  27. AU="Squillace, Lino"
  28. AU="Laufs, Sebastian"
  29. AU="McCanny, Suzette"
  30. AU="McHardy, John Alexander"
  31. AU="Erdal, Ranya"
  32. AU="Li, Long-Xia"
  33. AU="Esapa, Benjamina"

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  1. Artikel ; Online: Recent advances in primary immunodeficiency

    Giorgia Bucciol / Isabelle Meyts

    F1000Research, Vol

    from molecular diagnosis to treatment [version 1; peer review: 3 approved]

    2020  Band 9

    Abstract: The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment. We will ... ...

    Abstract The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment. We will summarize the challenges posed by the growth of next-generation sequencing in the clinical setting, touch briefly on the expansion of the concept of inborn errors of immunity beyond the classic immune system realm, and finally review current developments in targeted therapies, stem cell transplantation, and gene therapy.
    Schlagwörter Medicine ; R ; Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2020-03-01T00:00:00Z
    Verlag F1000 Research Ltd
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

    Giorgia Bucciol / Leen Moens / Masato Ogishi / Darawan Rinchai / Daniela Matuozzo / Mana Momenilandi / Nacim Kerrouche / Catherine M. Cale / Elsa R. Treffeisen / Mohammad Al Salamah / Bandar K. Al-Saud / Alain Lachaux / Remi Duclaux-Loras / Marie Meignien / Aziz Bousfiha / Ibtihal Benhsaien / Anna Shcherbina / Anna Roppelt / COVID Human Genetic Effort /
    Florian Gothe / Nadhira Houhou-Fidouh / Scott J. Hackett / Lisa M. Bartnikas / Michelle C. Maciag / Mohammed F. Alosaimi / Janet Chou / Reem W. Mohammed / Bishara J. Freij / Emmanuelle Jouanguy / Shen-Ying Zhang / Stephanie Boisson-Dupuis / Vivien Béziat / Qian Zhang / Christopher J.A. Duncan / Sophie Hambleton / Jean-Laurent Casanova / Isabelle Meyts

    The Journal of Clinical Investigation, Vol 133, Iss

    2023  Band 12

    Abstract: STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients’ cells ... ...

    Abstract STAT2 is a transcription factor activated by type I and III IFNs. We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency. Both cells transfected with mutant STAT2 alleles and the patients’ cells displayed impaired expression of IFN-stimulated genes and impaired control of in vitro viral infections. Clinical manifestations from early childhood onward included severe adverse reaction to live attenuated viral vaccines (LAV) and severe viral infections, particularly critical influenza pneumonia, critical COVID-19 pneumonia, and herpes simplex virus type 1 (HSV-1) encephalitis. The patients displayed various types of hyperinflammation, often triggered by viral infection or after LAV administration, which probably attested to unresolved viral infection in the absence of STAT2-dependent types I and III IFN immunity. Transcriptomic analysis revealed that circulating monocytes, neutrophils, and CD8+ memory T cells contributed to this inflammation. Several patients died from viral infection or heart failure during a febrile illness with no identified etiology. Notably, the highest mortality occurred during early childhood. These findings show that AR complete STAT2 deficiency underlay severe viral diseases and substantially impacts survival.
    Schlagwörter Immunology ; Medicine ; R
    Sprache Englisch
    Erscheinungsdatum 2023-06-01T00:00:00Z
    Verlag American Society for Clinical Investigation
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

    Giorgia Bucciol / David Cassiman / Tania Roskams / Marleen Renard / Ilse Hoffman / Peter Witters / Rik Schrijvers / Heidi Schaballie / Barbara Bosch / Maria Caterina Putti / Olivier Gheysens / Noel Knops / Marc Gewillig / Djalila Mekahli / Jacques Pirenne / Isabelle Meyts

    Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-

    2018  Band 6

    Abstract: Abstract Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe ...

    Abstract Abstract Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe hepatopulmonary syndrome as a consequence of chronic vitamin A intoxication. She underwent successful liver transplantation with complete resolution of the pulmonary shunting.
    Schlagwörter Vitamin A ; Liver transplantation ; Shwachman-Diamond syndrome ; Hepatopulmonary syndrome ; Medicine ; R
    Sprache Englisch
    Erscheinungsdatum 2018-05-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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