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Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency

Authors

  • Carolina Prando,

    1. Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
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  • Stéphanie Boisson-Dupuis,

    1. Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    3. Necker Medical School, University Paris Descartes, Paris, France
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  • Audrey V. Grant,

    1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    2. Necker Medical School, University Paris Descartes, Paris, France
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  • Xiao-Fei Kong,

    1. Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    3. Necker Medical School, University Paris Descartes, Paris, France
    4. French-Chinese Laboratory of Genetics and Life Science, Ruijin Hospital, Shanghai Jiaotong University, Shanghai, People's Republic of China
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  • Jacinta Bustamante,

    1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    2. Necker Medical School, University Paris Descartes, Paris, France
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  • Jacqueline Feinberg,

    1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    2. Necker Medical School, University Paris Descartes, Paris, France
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  • Ariane Chapgier,

    1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    2. Necker Medical School, University Paris Descartes, Paris, France
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  • Yoann Rose,

    1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    2. Necker Medical School, University Paris Descartes, Paris, France
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  • Lucile Jannière,

    1. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    2. Necker Medical School, University Paris Descartes, Paris, France
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  • Elena Rizzardi,

    1. Department of Pediatrics, Division of Pediatric Infectious Diseases, University of Padua, Padua, Italy
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  • Qiuping Zhang,

    1. Cardiovascular Division, King's College London, James Black Centre, London, UK
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  • Catherine M. Shanahan,

    1. Cardiovascular Division, King's College London, James Black Centre, London, UK
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  • Louis Viollet,

    1. INSERM U781, Necker Medical School, University Paris Descartes, Paris, France
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  • Stanislas Lyonnet,

    1. INSERM U781, Necker Medical School, University Paris Descartes, Paris, France
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  • Laurent Abel,

    1. Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    3. Necker Medical School, University Paris Descartes, Paris, France
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  • Ezia Maria Ruga,

    1. Department of Pediatrics, Division of Pediatric Infectious Diseases, University of Padua, Padua, Italy
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  • Jean-Laurent Casanova

    Corresponding author
    1. Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA
    2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U550, Necker Medical School, Paris, France
    3. Necker Medical School, University Paris Descartes, Paris, France
    4. French-Chinese Laboratory of Genetics and Life Science, Ruijin Hospital, Shanghai Jiaotong University, Shanghai, People's Republic of China
    5. Pediatric Immunology and Hematology Unit, Necker Enfants Malades Hospital, Paris, France
    • Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, 1230 York Avenue, Box 163, New York, NY 10065.
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  • How to cite this article: Prando C, Boisson-Dupuis S, Grant A, Kong X-F, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova J-L. 2010. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency. Am J Med Genet Part A 152A:622–629.

  • Stéphanie Boisson-Dupuis, Audrey Grant, Authors made an Equal Contribution.

Abstract

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN-γR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic features of a 7-year-old Italian boy suffering from MSMD associated with a complex phenotype, including neonatal hyperglycemia, neuromuscular disease, and dysmorphic features. The child also developed necrotizing pneumonia caused by Rhodococcus equi. The child is homozygous for a nonsense mutation in exon 3 of IFNGR1 as a result of paternal uniparental disomy (UPD) of the entire chromosome 6. This is the first reported case of uniparental disomy resulting in a complex phenotype including MSMD. © 2010 Wiley-Liss, Inc.

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