Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

Heleen D de Koning; Mariëlle E van Gijn; Monique Stoffels; Johanna Jongekrijg; Patrick L J M Zeeuwen; Martin G Elferink; Isaac J Nijman; Patrick A M Jansen; Kornelia Neveling; Jos W M van der Meer; Joost Schalkwijk; Anna Simon

doi:10.1016/j.jaci.2014.07.050

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16.

Affiliations

¹ Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands. Electronic address: [email protected].
² Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
³ Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands.
⁴ Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands.
⁵ Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease (IGMD), Nijmegen, The Netherlands.
⁶ Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands. Electronic address: [email protected].
⁷ Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands.

PMID: 25239704
DOI: 10.1016/j.jaci.2014.07.050

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Carrier Proteins / genetics*
High-Throughput Nucleotide Sequencing
Humans
Mosaicism*
Myeloid Cells / metabolism*
NLR Family, Pyrin Domain-Containing 3 Protein
Schnitzler Syndrome / diagnosis
Schnitzler Syndrome / genetics*

Substances

Carrier Proteins
NLR Family, Pyrin Domain-Containing 3 Protein
NLRP3 protein, human