Literature DB >> 25239704

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

Heleen D de Koning1, Mariëlle E van Gijn2, Monique Stoffels3, Johanna Jongekrijg3, Patrick L J M Zeeuwen4, Martin G Elferink2, Isaac J Nijman2, Patrick A M Jansen4, Kornelia Neveling5, Jos W M van der Meer3, Joost Schalkwijk6, Anna Simon7.   

Abstract

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Year:  2014        PMID： 25239704     DOI： 10.1016/j.jaci.2014.07.050

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  36 in total

Review 1.  Neutrophilic dermatoses and autoinflammatory diseases with skin involvement--innate immune disorders.

Authors:  Alexander A Navarini; Takashi K Satoh; Lars E French
Journal:  Semin Immunopathol       Date:  2015-11-30       Impact factor: 9.623

Review 2.  Schnitzler Syndrome: a Review.

Authors:  L Gusdorf; D Lipsker
Journal:  Curr Rheumatol Rep       Date:  2017-08       Impact factor: 4.592

Review 3.  [Genetics of cryopyrin-associated periodic syndrome].

Authors:  J B Kümmerle-Deschner; P Lohse
Journal:  Z Rheumatol       Date:  2017-05       Impact factor: 1.372

Review 4.  The autoinflammatory diseases: a fashion with blurred boundaries!

Authors:  G Sarrabay; M Barat-Houari; S Annakib; I Touitou
Journal:  Semin Immunopathol       Date:  2015-05-22       Impact factor: 9.623

5.  Genetic analysis utility in rare and uncharacterized autoinflammatory diseases.

Authors:  Riccardo Bixio
Journal:  Clin Rheumatol       Date:  2021-01-09       Impact factor: 2.980

6.  Can therapeutic response to IL-1 blockade confirm the diagnosis of Schnitzler syndrome?

Authors:  Chen Wang
Journal:  Clin Rheumatol       Date:  2021-01-11       Impact factor: 2.980

Review 7.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

8.  NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.

Authors:  Hiroshi Nakanishi; Yoshiyuki Kawashima; Kiyoto Kurima; Jae Jin Chae; Astin M Ross; Gineth Pinto-Patarroyo; Seema K Patel; Julie A Muskett; Jessica S Ratay; Parna Chattaraj; Yong Hwan Park; Sriharsha Grevich; Carmen C Brewer; Michael Hoa; H Jeffrey Kim; John A Butman; Lori Broderick; Hal M Hoffman; Ivona Aksentijevich; Daniel L Kastner; Raphaela Goldbach-Mansky; Andrew J Griffith
Journal:  Proc Natl Acad Sci U S A       Date:  2017-08-28       Impact factor: 11.205

Review 9.  The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

Authors:  Kalpana Manthiram; Qing Zhou; Ivona Aksentijevich; Daniel L Kastner
Journal:  Nat Immunol       Date:  2017-07-19       Impact factor: 25.606

Review 10.  Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.

Authors:  Conor Gruber; Dusan Bogunovic
Journal:  Hum Genet       Date:  2020-02-17       Impact factor: 4.132
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