Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions A.-V. Doncker,

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Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions A.-V. Doncker, K. Balabanian, C. Bellanné-Chantelot, S. de Guibert, M. Revest, F. Bachelerie, T. Lamy Clinical Microbiology and Infection Volume 17, Issue 2, Pages 135-139 (February 2011) DOI: 10.1111/j.1469-0691.2010.03187.x Copyright © 2011 European Society of Clinical Infectious Diseases Terms and Conditions

FIG. 1 Clinical features of patient 1. (a) Warts on the right hand. (b) Mesenteric lymph node (× 20, hematoxylin/eosin/saffron staining) showing a tuberculoid reaction with central necrosis and peripheral agglutination of epithelioid cells on Langhans cells (see arrow). (c) Fluorodeoxyglucose (FDG)-positron emission tomography imaging showing abnormal FDG uptakes on a mesenteric mass at diagnosis (left panel) and its normalization after 6 months of interferon α2-a therapy (right panel). Clinical Microbiology and Infection 2011 17, 135-139DOI: (10.1111/j.1469-0691.2010.03187.x) Copyright © 2011 European Society of Clinical Infectious Diseases Terms and Conditions

FIG. 2 Impaired CXCR4 internalization in T lymphocytes from patients 1 and 2. (a, c) Membrane expression of CXCR4 in CD4+-gated T cells from unstimulated peripheral blood mononuclear cells of patient 1 (P1), patient (P2) and two independent healthy subjects (CTRL#1 and #2) was determined by flow cytometry using the phycoerythrin-conjugated 12G5 (empty histograms) or isotype control (grey histograms) monoclonal antibodies. Similar results were obtained in CD8+-gated T cells and expression levels of CCR7 were in the same range at the surface of T cells derived from patients and controls (data not shown). (b, d) Ligand-promoted internalization of CXCR4 or CCR7 was assessed in CD4+-gated T cells from P1 and P2 vs. CTRL#1 and #2. Cells were either untreated or treated with 200 nM CXCL12, phorbol 12-myristate 13-acetate or CCL21. Receptor levels are expressed as a percent of the expression in untreated cells. Results are the mean ± SD from one experiment performed in duplicate (b) or of two independent determinations performed in duplicate (d). Statistically significant differences between patient and control cells are indicated (unpaired two-tailed Student's t-test, **p <0.005). Clinical Microbiology and Infection 2011 17, 135-139DOI: (10.1111/j.1469-0691.2010.03187.x) Copyright © 2011 European Society of Clinical Infectious Diseases Terms and Conditions