| Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions. | |
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MedLine Citation:
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PMID: 20148920 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Clin Microbiol Infect 2011; 17: 135-139 ABSTRACT: Disseminated Mycobacterium avium complex (MAC) infection is a rare but severe disease mostly seen in patients with AIDS. It has been previously described in patients suffering from other kinds of immunodeficiency (e.g. primary immunodeficiency diseases in children or hairy cell leukaemia). We report two cases of disseminated MAC disease in young women with extended granulomatosis that revealed a new form of severe immunodeficiency syndrome. Both clinical observations initially appeared to be very similar to WHIM syndrome (Warts, Hypogammaglobulinemia, Infection, Myelokathexis), a rare immunodeficiency disease correlated with CXC chemokine receptor 4 (CXCR4) mutation leading to an impaired internalization of the receptor upon its ligand CXCL12. We investigated the CXCR4 status of the lymphocytes in both patients and found a severe defect in CXCL12-promoted internalization but no mutation of its gene. Moreover, myelokathexis was not noted in bone marrow biopsies and therefore a diagnosis of WHIM syndrome could not be assessed. This immunodeficiency syndrome associated with CXCR4 dysfunction was responsible for severe MAC infection in our patients, with a fatal outcome in one case. It may be possible that these patients would have benefited from early antimycobacterial infection or azythromycin prophylaxis. |
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Authors:
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A-V Doncker; K Balabanian; C Bellanné-Chantelot; S de Guibert; M Revest; F Bachelerie; T Lamy |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases Volume: 17 ISSN: 1469-0691 ISO Abbreviation: Clin. Microbiol. Infect. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-21 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9516420 Medline TA: Clin Microbiol Infect Country: France |
Other Details:
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Languages: eng Pagination: 135-9 Citation Subset: IM |
Copyright Information:
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© 2010 The Authors. Journal Compilation © 2010 European Society of Clinical Microbiology and Infectious Diseases. |
Affiliation:
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Service d'Hématologie Clinique, Centre Hospitalier Universitaire de Rennes, Rennes INSERM UMR_S 996, Université Paris-Sud 11, Clamart Département de Génétique, AP-HP Hôpital de la Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris Service des Maladies Infectieuses, Centre Hospitalier Universitaire de Rennes Unité de Pathogénie Virale, Institut Pasteur, Paris INSERM U819, Paris INSERM U917, Université Rennes1, Rennes, France. |
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