1. Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome 
Heleen D. de Koning, MD, Mariëlle E. van Gijn, MD, PhD, Monique Stoffels, PhD, Johanna Jongekrijg, BSc, Patrick L.J.M. Zeeuwen, PhD, Martin G. Elferink, PhD, Isaac J. Nijman, PhD, Patrick A.M. Jansen, PhD, Kornelia Neveling, PhD, Jos W.M. van der Meer, MD, PhD, Joost Schalkwijk, PhD, Anna Simon, MD, PhD 
Journal of Allergy and Clinical Immunology 
Volume 135, Issue 2, Pages e4 (February 2015)
DOI: /j.jaci
Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2. Fig 1
A, Sanger sequencing in patient 7. The chromatogram shows the NLRP3 variant c.1569C>G (p.F523L), as well as the wild-type allele. B, Sanger sequencing in patient 8. The chromatogram shows the NLRP3 variant c.1303A>G (p.K435E), as well as the wild-type allele. C, Neutrophils and monocytes in lesional skin of patients with Schnitzler syndrome. Immunohistochemical staining of skin sections with antimyeloperoxidase, which is predominantly present in neutrophils and, to a lesser extent, in monocytes, is shown. The panels show the uninvolved skin of patient 7 and the lesional skin of patients 7 and 8. Bar length = 100 μm. D, Spontaneous in vitro production of IL-1β and IL-6 in PBMCs with NLRP3 mosaicism. PBMCs from patients with Schnitzler syndrome without (SchS non-mosaics) and with (SchS mosaics) NLRP3 mosaicism sampled during anti–IL-1β treatment and PBMCs from healthy control subjects were cultured for 24 hours either in the presence of IL-1Ra or not. Supernatant IL-1β and IL-6 levels were measured by means of ELISA. E, Positions of known and mosaicism-related mutations in the NLRP3 gene in patients with CAPS and those with Schnitzler syndrome. LRR, Leucine-rich repeats; PYD, pyrin domain; NACHT domain; UTR, untranslated region.
Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci )
Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions