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Neu beschriebener homozygoter Interferon-γ-Rezeptor-2-Defekt

Chronisch multifokale Osteomyelitis durch Mycobacterium avium

Novel interferon γ receptor 2 defect

Chronic multifocal osteomyelitis with Mycobacterium avium

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Zusammenfassung

Unter den Begriff leukozytär-mykobakterizide Defekte fallen verschiedene partielle oder komplette Störungen, die den Interferon-γ-Rezeptor, den Interleukin-12-Rezeptor oder Interleukin 12 selbst betreffen. Die Patienten werden durch disseminierte Infektionen mit nichttuberkulösen Mykobakterien oder auch BCG sowie Non-Typhus-Salmonellen-Infektionen auffällig. Die Histologie zeigt Granulome in den betroffenen Organen. Die einzige kurative Therapie bei homozygoten Interferon-γ-Rezeptor-1- oder -2-Defekten stellt die bei dieser Indikation wenig erprobte Stammzelltransplantation dar. Infektionen, die durch partielle Interferon-γ-Rezeptor-1- oder -2-Defekte verursacht werden, werden antibiotisch, evtl. mit zusätzlicher Gabe von Interferon, behandelt. Die Kasuistik beschreibt die erfolgreiche medikamentöse Therapie einer chronisch multifokalen Mycobacterium-avium-Osteomyelitis aufgrund eines erstmalig beschriebenen homozygoten Interferon-γ-Rezeptor-2-Defekts bei einem jetzt 8 Jahre alten Knaben. Bei der nun seit 30 Monaten etablierten antibiotischen Therapie konnte bis jetzt eine Remission erzielt werden.

Abstract

Partial or complete leukocidal-mycobactericidal defects affect the interferon γ receptor, interleukin 12 receptor or interleukin 12. These defects are genetically defined. Patients suffer mainly from infections with otherwise apathogenic mycobacterias (e.g. BCG) or non-typhus Salmonella spp. Granuloma formation can be found in different organs. In homozygous interferon γ receptor 1 or 2 defects, hematopoietic stem cell transplantation is the only curative therapeutic option. Infections caused by partial interferon γ receptor 1 or 2 defects are treated with antibiotics. Interferon γ can be administered concomitantly. A defect of the interleukin 12 molecule is associated with an increased incidence of infections with Salmonella species. Antibiotic treatment is essential; interferon γ can be tried additionally. We describe an 8-year-old boy with chronic multifocal Mycobacterium avium osteomyelitis caused by a newly discovered homozygous interferon γ receptor 2 defect. Antibiotic therapy achieved 30 months remission.

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Authors and Affiliations

  1. Abteilung für Kinder- und Jugendheilkunde, Klinikum der Kreuzschwestern , Wels, Österreich

    D. Furthner, J. Mühleder & F. Eitelberger

  2. Forschungszentrum Borstel, Leibniz-Zentrum für Medizin und Biowissenschaften, Nationales Referenzzentrum für Mykobakterien, Borstel

    E. Richter

  3. Dr. von Haunersches Kinderspital, München

    C. Engelhorn & B. H. Belohradsky

  4. Humangenetisches Labor für Infektionskrankheiten des Kindesalters, Faculté de Medecine Necker Enfants-Malades, Paris, Frankreich

    J. L. Casanova

  5. Abteilung für Kinder- und Jugendheilkunde, Klinikum Kreuzschwestern Wels, Grieskirchnerstraße 42, 4600, Wels, Österreich

    D. Furthner

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  1. D. Furthner
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  2. J. Mühleder
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  3. F. Eitelberger
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  4. E. Richter
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  5. C. Engelhorn
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  6. B. H. Belohradsky
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  7. J. L. Casanova
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Correspondence to D. Furthner.

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Furthner, D., Mühleder, J., Eitelberger, F. et al. Neu beschriebener homozygoter Interferon-γ-Rezeptor-2-Defekt. Monatsschr Kinderheilkd 155 (Suppl 1), S58–S61 (2007). https://doi.org/10.1007/s00112-005-1270-7

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  • DOI: https://doi.org/10.1007/s00112-005-1270-7

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