Immunodeficiency Associated with a Nonsense Mutation of IKBKB

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• 作者：Christian Nielsen (1) <br> Marianne A. Jakobsen (1) <br> Martin Jakob Larsen (2) (3) <br> Amanda C. Müller (1) <br> Soren Hansen (4) <br> Søren T. Lillevang (1) <br> Niels Fisker (5) <br> Torben Barington (1) <br>
• 关键词：IKBKB ; IKKβ ; SCID ; immunodeficiency ; NF ; κB ; BCG vaccine
• 刊名：Journal of Clinical Immunology
• 出版年：2014
• 出版时间：November 2014
• 年：2014
• 卷：34
• 期：8
• 页码：916-921
• 全文大小：666 KB
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• 作者单位：Christian Nielsen (1) <br> Marianne A. Jakobsen (1) <br> Martin Jakob Larsen (2) (3) <br> Amanda C. Müller (1) <br> Soren Hansen (4) <br> S?ren T. Lillevang (1) <br> Niels Fisker (5) <br> Torben Barington (1) <br><br>1. Department of Clinical Immunology, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense C, Denmark <br> 2. Department of Clinical Genetics, Odense University Hospital, Odense, Denmark <br> 3. Human Genetics, Clinical Institute, University of Southern Denmark, Odense, Denmark <br> 4. Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark <br> 5. Hans Christian Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark <br>
• ISSN：1573-2592

文摘

We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated withhomozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory insufficiency and Pneumocystis jirovecii pneumonia which was successfully treated. At nine months, iatrogenic systemic infection with Mycobacterium bovis was found and eventually led to her death at age 14months. Laboratory findings were reminiscent of hyper-IgM syndrome, but genetic testing gave no explanation before whole exome sequencing revealed a novel mutation abrogating signaling through the canonical NF-κB pathway.