Disseminated Mycobacterium avium Infection in a Patient with a Novel Mutation in the Interleukin-12 Receptor-β1 Chain - 07/03/14
Doi : 10.1016/j.jpeds.2008.05.050
Filomeen Haerynck, MD a, ⁎ 
, Steve M. Holland, MD, PhD b, Sergio D. Rosenzweig, MD, PhD c, Jean-Laurent Casanova, MD, PhD d, Petra Schelstraete, MD a, Frans De Baets, MD, PhD a
, Steve M. Holland, MD, PhD b, Sergio D. Rosenzweig, MD, PhD c, Jean-Laurent Casanova, MD, PhD d, Petra Schelstraete, MD a, Frans De Baets, MD, PhD a a Ghent University Hospital, Department of Pediatric Pulmonology and Immunology, Ghent, Belgium
b Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institute of Health, Bethesda, MD
c Servicio de Immunología, Hospital Nacional de Pediatría, “JP Garrahan,” Buenos Aires, Argentina
d Laboratory of Human Genetics of Infectious Diseases, INSERMU550, and Unité Clinique d'Immunologie et d'Hématologie Pédiatriques, Hôpital Necker-Enfants Malades, University Paris René Descartes, Paris, France
Reprint requests: Dr Filomeen Haerynck, Department of Pediatric Pulmonology and Immunology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, BelgiumRésumé |
A girl with relapsing cervical lymphadenopathy due to Mycobacterium avium subsequently developed abdominal adenopathy and intestinal inflammation. 1 known (c.1623_1624delGCinsTT) and 1 novel mutation (c.65_68delCTGC of exon2) of the Interleukin-12 Receptor-β1 (IL-12Rβ1) gene was detected. Unlike reports of a more favorable outcome in these patients, our patient died of severe intestinal involvement.
Le texte complet de cet article est disponible en PDF.Abbreviations : BCG, IL-12Rβ1, MSMD
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Vol 153 - N° 5
P. 721-722 - novembre 2008 Retour au numéro
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