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Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation  Karin R. Engelhardt, PhD, Neil.

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Presentation on theme: "Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation  Karin R. Engelhardt, PhD, Neil."— Presentation transcript:

1 Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation  Karin R. Engelhardt, PhD, Neil Shah, MD, Intan Faizura-Yeop, MD, Dilara F. Kocacik Uygun, MD, Natalie Frede, Aleixo M. Muise, MD, PhD, Eyal Shteyer, MD, Serkan Filiz, MD, Ronnie Chee, MD, Mamoun Elawad, MD, Britta Hartmann, PhD, Peter D. Arkwright, MD, PhD, Christopher Dvorak, MD, Christoph Klein, MD, PhD, Jennifer M. Puck, MD, Bodo Grimbacher, MD, Erik-Oliver Glocker, MD  Journal of Allergy and Clinical Immunology  Volume 131, Issue 3, Pages e9 (March 2013) DOI: /j.jaci Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig E1 Sequence chromatograms of patients with mutations in IL10RA (encoding IL-10R1), IL10RB (encoding IL-10R2), and IL10 (encoding IL-10). Affected bases are marked with an arrow, resulting mutant base triplets are underlined, and their effect on protein expression is indicated. Journal of Allergy and Clinical Immunology  , e9DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig E1 Sequence chromatograms of patients with mutations in IL10RA (encoding IL-10R1), IL10RB (encoding IL-10R2), and IL10 (encoding IL-10). Affected bases are marked with an arrow, resulting mutant base triplets are underlined, and their effect on protein expression is indicated. Journal of Allergy and Clinical Immunology  , e9DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E2 Genotypes at triplet 57 of IL10RA of patient 6's family. The mother and her healthy son are heterozygous, carrying a wild-type (tyrosine) and mutant allele (cysteine). The father is heterozygous, with 1 wild-type allele and 1 allele with a large deletion. The affected boy is compound heterozygous, with the mutant allele from his mother and the deletion from his father. Journal of Allergy and Clinical Immunology  , e9DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig E3 IL-10 did not inhibit TNF-α release in LPS-challenged PBMCs from IL-10R–deficient patients 1, 2, 3, 6, and 7 when compared with that seen in healthy control subjects (n = 10). Mutant IL-10, as expressed in patients 8 and 9, does not inhibit TNF-α release in LPS-challenged PBMCs from healthy donors. TNF-α concentrations in supernatants were measured by using ELISA. Journal of Allergy and Clinical Immunology  , e9DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Fig E4 Patients' pedigrees. Circles represent female and squares represent male subjects. Solid symbols illustrate homozygous affected patients, half-solid symbols indicate heterozygous healthy carriers, and open symbols indicate wild-type healthy individuals. Dashes indicate deceased subjects and asterisks indicate sequenced subjects. The parents of patients 1, 2, and 5 are most likely also heterozygous carriers, but they have not been tested by sequencing analysis. Journal of Allergy and Clinical Immunology  , e9DOI: ( /j.jaci ) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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