Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis Giuliana Giardino,

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Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis Giuliana Giardino, MD, Vera Gallo, MD, Domenico Somma, PhD, Emily G. Farrow, PhD, Isabelle Thiffault, PhD, Roberta D'Assante, PhD, Vittoria Donofrio, MD, Mariateresa Paciolla, PhD, Matilde Valeria Ursini, PhD, Antonio Leonardi, MD, PhD, Carol J. Saunders, PhD, Claudio Pignata, MD, PhD Journal of Allergy and Clinical Immunology Volume 137, Issue 5, Pages 1591-1595.e4 (May 2016) DOI: 10.1016/j.jaci.2015.09.050 Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 MYD88 deficiency impairs TLR and IL-1R responses of PBMCs. A, Family pedigree. The proband is indicated with an arrow. Healthy persons are shown in white; deceased siblings are indicated by line crossing. B, Genomic sequence analysis of MYD88 gene showing a homozygous in-frame deletion, c.196_198del GGA (p.Glu66del). Both parents are heterozygous for the same mutation. C-F, Real-time PCR analysis of the mRNA extracted from the patient's PBMCs stimulated with LPS, IL-1, TNF-α, and poly (I:C) (TLR3 ligand) revealed reduced levels of IL-6, IL-1, CCL2, and CCL3, as compared with the healthy control, in response to LPS and IL-1 stimulation, while they were normally induced after TNF-α and TLR3 stimulation. G and H, Fibroblasts from a healthy control and from the MYD88-deficient child, transiently transfected with an expression vector encoding wild-type (WT) MYD88. Cells from MyD88-deficient patient regained IL-1β and LPS responsiveness after transfection with the WT MYD88 gene, as shown by the levels of IL-1 and IL6. Y-axis values, on the right side, are referred to LPS stimulation. I, Western blotting using anti–FLAG-specific antibody to verify the transfection of patients' fibroblasts with plasmids carrying WT MYD88. Journal of Allergy and Clinical Immunology 2016 137, 1591-1595.e4DOI: (10.1016/j.jaci.2015.09.050) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Clinical features. A and B, Axillary suppurative lymphadenitis of the left arm. C and D, Grocott stain revealed conspicuous infiltration of bacilli in the intestinal wall. E and F, Intestinal wall histology revealed vast areas of marginal necrosis, full-thickness massive edema, and inflammatory infiltrates. Journal of Allergy and Clinical Immunology 2016 137, 1591-1595.e4DOI: (10.1016/j.jaci.2015.09.050) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions