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A new case of Fas-associated death domain protein deficiency and update on treatment outcomes  Sinisa Savic, PhD, David Parry, PhD, Clive Carter, PhD,

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Presentation on theme: "A new case of Fas-associated death domain protein deficiency and update on treatment outcomes  Sinisa Savic, PhD, David Parry, PhD, Clive Carter, PhD,"— Presentation transcript:

1 A new case of Fas-associated death domain protein deficiency and update on treatment outcomes 
Sinisa Savic, PhD, David Parry, PhD, Clive Carter, PhD, Colin Johnson, PhD, Clare Logan, PhD, Beatriz Morillo Gutierrez, MD, Julian E. Thomas, MD, Chris M. Bacon, PhD, Andrew Cant, MD, Sophie Hambleton, Dphil  Journal of Allergy and Clinical Immunology  Volume 136, Issue 2, Pages e4 (August 2015) DOI: /j.jaci Copyright © Terms and Conditions

2 Fig 1 Identification of FADD mutations in the new case of FADD deficiency. A, Pedigree of the family with affected individuals shaded black. The genotypes for the FADD mutation identified (NM_ :c.315T>G; NP_ :p.Cys105Trp) are given for individuals for whom samples were available for Sanger sequencing. B, FADD mutation identified through whole exome sequencing of the parent-child trio (IV:1, IV:2, and V:5). A snapshot from Integrative Genomics Viewer6 is shown for the mutation FADD mutation. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © Terms and Conditions

3 Fig 2 Gastrointestinal pathology post-HSCT in a previous case of FADD deficiency. The small intestine showed marked mucosal and submucosal hemorrhage and edema (A) with multiple ischemic lesions. Acute lesions (Fig 2, A) showed mucosal necrosis with ischemic damage to the muscularis propria, leading to multiple perforations. Some ischemic lesions healed with granulation tissue (B), and some more chronic/mild lesions characterized by mucin depletion and crypt withering were present (C). Within the submucosa, subserosa, and mesentery, there were many small or medium-sized arteries showing moderate to almost complete luminal narrowing as a result of an obliterative arteriopathy characterized by variable medial and intimal hyperplasia and fibrosis, with focal myxoid change and erythrocyte extravasation (D-F). G, MRI brain: Encephalitis protocol. There are multiple punctate high T2 signal lesions within the corona radiata bilaterally that demonstrate restricted diffusion. Further, more subtle lesions are demonstrated within the cerebellar white matter. Restricted diffusion is also demonstrated within the splenium and the rostrum of the corpus callosum. No evidence of microhemorrhage on the gradient echo sequence. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © Terms and Conditions

4 Fig E1 Anti–pneumococcal antibody levels before and after vaccination with Prevnar 13. Arrow indicates the time of vaccination. The response to vaccination was determined using the Binding Site pneumococcal capsular assay, which measures total anti–pneumococcal antibody response against the following serotypes: 1-5, 6B, 7F, 8, 9N, 9V, 10A, 11A, 12F, 14, 15B, 17F, 18C, 19F, 19A, 20, 22F, 23F, and 33F (Danish nomenclature). Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © Terms and Conditions

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