Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions.

Anne-Violaine Doncker 1 Karl Balabanian 2 Christine Bellanné-Chantelot 3 Sophie De Guibert 1 Matthieu Revest 4 Françoise Bachelerie 5 Thierry Lamy 6, *
* Auteur correspondant
1 Service d'hématologie clinique
2 Cytokines, chimiokines et immunopathologie
3 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
4 Service des maladies infectieuses et réanimation médicale
5 Pathogénie Virale Moléculaire
6 MiCa - Microenvironnement et cancer
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.
Keywords : CXCR4 granulomatosis immunodeficiency Mycobacterium avium complex WHIM
Type de document :
Article dans une revue
Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2011, 17 (2), pp.135-9. 〈10.1111/j.1469-0691.2010.03187.x〉
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Soumis le : mercredi 2 octobre 2013 - 15:28:54
Dernière modification le : jeudi 2 août 2018 - 15:28:03

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PASTEUR | U917 | BIOSIT | UR1-UFR-SVE | MICMAC | UNIV-RENNES

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Anne-Violaine Doncker, Karl Balabanian, Christine Bellanné-Chantelot, Sophie De Guibert, Matthieu Revest, et al.. Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions.. Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2011, 17 (2), pp.135-9. 〈10.1111/j.1469-0691.2010.03187.x〉. 〈inserm-00869170〉

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