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Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma  Alessia Scarselli, MD, Silvia Di Cesare, BSc, Gigliola Di Matteo,

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Presentation on theme: "Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma  Alessia Scarselli, MD, Silvia Di Cesare, BSc, Gigliola Di Matteo,"— Presentation transcript:

1 Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma 
Alessia Scarselli, MD, Silvia Di Cesare, BSc, Gigliola Di Matteo, BSc, PhD, Arianna De Matteis, MD, Paola Ariganello, MD, Maria Luisa Romiti, BSc, PhD, Simona Cascioli, BSc, Rita De Vito, MD, Alice Bertaina, MD, PhD, Franco Locatelli, MD, PhD, H. Bobby Gaspar, MD, PhD, Alessandro Aiuti, MD, PhD, Paolo Rossi, MD, PhD, Kimberly Gilmour, MD, PhD, Caterina Cancrini, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 137, Issue 3, Pages e5 (March 2016) DOI: /j.jaci Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 A and B, Defective JAK3 expression and signaling. Fig 1, A, Percentage (I) and median fluorescence intensity (MFI) (II) of STAT5+ cells gated on patient's CD4+CD45RO+ after IL-2 stimulation for 10 minutes at the indicated concentrations compared with those of the parents and brother. Data are shown as difference between stimulated and unstimulated samples. (III) STAT5+ cells on EBV cell lines (difference between stimulated and unstimulated) after IL-2 and IL-15 stimulation compared with healthy donor (HD). Fig 1, B, (I) Western blot analysis of whole-cell extracts from EBV-transformed B lymphocytes of JAK3-mutated patient and HD. (II) IL-2 stimulation of JAK3 tyrosine phosphorylation. Lysates were immunoprecipitated with an antibody to JAK3 and then immunoblotted with an antiphosphotyrosine antibody. Pt, Patient. Journal of Allergy and Clinical Immunology  , e5DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig E1 Cutaneous and tendons biopsy (E&E10×). Inflammatory process with lymphohistiocytic infiltration in dermis (A) and tendon (B) forming nonnecrotizing granuloma. Journal of Allergy and Clinical Immunology  , e5DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E2 CpG response. A, Contour plots show the staining of B cells in the absence or presence of CpG. The gates identify the different B-cell populations: IgM+ and IgM− CD27bright plasma cells, CD27+ memory B cells, which are either IgM memory (IgM+) or switched memory (IgM−), and mature B cells. The numbers indicate the percentages of these subpopulations in the B-cell gate. B, The histograms represent the concentration (μg/mL) of IgM (black column), IgA (white column), and IgG (gray column) antibodies in the supernatants of 7-day cultures with CpG in healthy control and the patient. UNT, Unstimulated. Journal of Allergy and Clinical Immunology  , e5DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig E3 Analysis of TCR diversity. TCRVβ spectratyping of CD3+ T cells showed a skewed pattern. Journal of Allergy and Clinical Immunology  , e5DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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