Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA
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To the Editor,
We report a 9 year-old Chinese girl, born full term with no family history of recurrent infections or immunodeficiency. She had received hepatitis B and BCG vaccinations at birth without complications. She had multiple infections in infancy including Klebsiella pneumoniae urinary tract infection at 1 month and another two episodes of Klebsiella pneumoniae bacteremia at 2 and 10 months of age, all treated with intravenous ceftriaxone with good recovery and documented clearance. However at 10 months, after presenting with fever, a macular rash, and hepatosplenomegaly, she was diagnosed with extensive abdominal lymphadenopathy on CT scan. The abdominal lymph node biopsy showed granulomatous formation and sensitive Mycobacterium tuberculosis complex was cultured . The intestinal tuberculosis was treated with rifampicin, isoniazid and pyrazinamide for 12 months with resolution of abdominal lymphadenopathy. At this time, the skin biopsy was clear of mycobacterial species....
KeywordsWhole Exome Sequencing Mycobacterium Bovis Mycobacterial Disease Intestinal Tuberculosis Mycobacterium Tuberculosis Complex
We would like to thank all the member of the Laboratory of Human Genetics of Infectious Diseases from both Paris and New York. A special thank you is extended to Tatiana Kochetkov for the cell culture help and to Yelena Nemirovskaya for the outstanding administrative support. The laboratory of Human Genetics of Infectious Diseases is supported by grants from the National Institute of Allergy and Infectious Diseases (NIAID) (grant n° R37AI095983 and P01AI061093), the National Center for Research Resources and the National Center for Advancing Sciences (NCATS) (grant n° 8UL1TR000043), the Rockefeller University, the St. Giles Foundation, Institut National de la Santé et de la Recherche Médicale (INSERM), University Paris Descartes, the European Research Council (ERC-2010-AdG-268777) and the French National Research Agency (ANR) (TBPATHGEN grant n°ANR-14-CE14-0007-01) and ANR under the “Investments for the future” program (grant n° ANR-10-IAHU-01).