Immunodeficiency: primary or acquired

Oral

cd4 T Cell-restricted il-2 Signaling Defect in a Patient with a Novel ifngr1 Mutation

Wednesday, June 14
6:15 PM - 7:45 PM

We identified a patient who is a compound heterozygote for mutations in the interferon-gamma receptor-1 gene [a maternally-derived frame-shift mutation in exon 4 and a paternally-derived premature stop-codon in exon 5]. Clinically, the patient has experienced pulmonary infections with mycobacterium fortuitum, mycobacterium-avium complex that were controlled with medications targeting rapid and slow-growing mycobacteria. In addition the patient developed chicken-pox following Varivax administration and also experienced a prolonged episode of severe eczema starting right after birth that was controlled at 6 months of age with topical medication. The patient who is now ~ 4.5 years old continues to experience intermittent episodes of HSV-induced gingivo-stomatitis but is clinically-stable and awaiting a peripheral blood stem cell transplant.


Immunologically the patient had slightly depressed CD8 T cell and NK cell counts at initial analysis and mildly elevated frequencies of both isotype-switched and unswitched circulating B cells and normal mitogen-induced lymphocyte proliferation. We also observed a loss of IFNgR1 expression on the patient's lymphocytes and complete abrogation of STAT1 phosphorylation following treatment with recombinant human IFNg. In depth analysis of immune function additionally identified an IL-2 associated signaling deficiency that was restricted primarily to the circulating CD4 T cell subset.


Aaruni Khanolkar

Director, Diagnostic Immunology and Flow Cytometry
Ann and Robert H. Lurie Children� !s Hospital of Chicago, Northwestern University

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    Dawn Kirschmann

    Ann and Robert H. Lurie Children's Hospital of Chicago

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      Edward Caparelli

      Ann and Robert H. Lurie Children's Hospital of Chicago

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        Jenna Bergerson

        Allergy & Immunology Fellow
        Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University

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          Lawrence Jennings

          Director, HLA and Molecular Diagnostics Laboratory
          Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University

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            Ramsay Fuleihan

            Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University

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              cd4 T Cell-restricted il-2 Signaling Defect in a Patient with a Novel ifngr1 Mutation



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