Literature DB >> 36175752

Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).

Ranjit I Kylat1,2, Kelly Stanley1,2, Sarah Simon1, Robert P Erickson3.   

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked, known as IPEX syndrome, is a rare heterogeneous condition. Zhu-Tokita-Takenouchi-Kim Syndrome (ZTTK) is an autosomal dominant condition arising from a mutation in the SON gene, which is involved in mRNA splicing. A case showing interactions of mutations in these two genes is described in which both conditions become non-typical.
© 2022. The Author(s), under exclusive licence to Institute of Plant Genetics Polish Academy of Sciences.

Entities:  

Keywords:  Enteropathy; IPEX syndrome; Immune dysregulation; Polyendocrinopathy; Precision medicine; Zhu-Tokita-Takenouchi-Kim (ZZTK) syndrome

Year:  2022        PMID： 36175752     DOI： 10.1007/s13353-022-00728-6

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   2.653


  10 in total

1.  De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Authors:  Jung-Hyun Kim; Deepali N Shinde; Margot R F Reijnders; Natalie S Hauser; Rebecca L Belmonte; Gregory R Wilson; Daniëlle G M Bosch; Paula A Bubulya; Vandana Shashi; Slavé Petrovski; Joshua K Stone; Eun Young Park; Joris A Veltman; Margje Sinnema; Connie T R M Stumpel; Jos M Draaisma; Joost Nicolai; Helger G Yntema; Kristin Lindstrom; Bert B A de Vries; Tamison Jewett; Stephanie L Santoro; Julie Vogt; Kristine K Bachman; Andrea H Seeley; Alyson Krokosky; Clesson Turner; Luis Rohena; Maja Hempel; Fanny Kortüm; Davor Lessel; Axel Neu; Tim M Strom; Dagmar Wieczorek; Nuria Bramswig; Franco A Laccone; Jana Behunova; Helga Rehder; Christopher T Gordon; Marlène Rio; Serge Romana; Sha Tang; Dima El-Khechen; Megan T Cho; Kirsty McWalter; Ganka Douglas; Berivan Baskin; Amber Begtrup; Tara Funari; Kelly Schoch; Alexander P A Stegmann; Servi J C Stevens; Dong-Er Zhang; David Traver; Xu Yao; Daniel G MacArthur; Han G Brunner; Grazia M Mancini; Richard M Myers; Laurie B Owen; Ssang-Taek Lim; David L Stachura; Lisenka E L M Vissers; Eun-Young Erin Ahn
Journal:  Am J Hum Genet       Date:  2016-08-18       Impact factor: 11.025

Review 2.  Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Authors:  Qianru Huang; Xu Liu; Yujia Zhang; Jingyao Huang; Dan Li; Bin Li
Journal:  J Genet Genomics       Date:  2020-01-24       Impact factor: 4.275

Review 3.  Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.

Authors:  Jae Hyon Park; Keum Hwa Lee; Bokyoung Jeon; Hans D Ochs; Joon Suk Lee; Heon Yung Gee; Seeun Seo; Dongil Geum; Ciriaco A Piccirillo; Michael Eisenhut; Hans J van der Vliet; Jiwon M Lee; Andreas Kronbichler; Younhee Ko; Jae Il Shin
Journal:  Autoimmun Rev       Date:  2020-03-29       Impact factor: 9.754

Review 4.  From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation.

Authors:  Rosa Bacchetta; Federica Barzaghi; Maria-Grazia Roncarolo
Journal:  Ann N Y Acad Sci       Date:  2016-02-25       Impact factor: 5.691

5.  Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Authors:  Eleonora Gambineri; Sara Ciullini Mannurita; David Hagin; Marina Vignoli; Stephanie Anover-Sombke; Stacey DeBoer; Gesmar R S Segundo; Eric J Allenspach; Claudio Favre; Hans D Ochs; Troy R Torgerson
Journal:  Front Immunol       Date:  2018-11-01       Impact factor: 7.561

Review 6.  Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.

Authors:  Yu Yang; Lei Xu; Zhen Yu; Hui Huang; Li Yang
Journal:  Mol Genet Genomic Med       Date:  2019-09-26       Impact factor: 2.183

7.  Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Authors:  Ryszard Slezak; Robert Smigiel; Malgorzata Rydzanicz; Agnieszka Pollak; Joanna Kosinska; Piotr Stawinski; Maria Malgorzata Sasiadek; Rafal Ploski
Journal:  Mol Genet Genomic Med       Date:  2020-07-24       Impact factor: 2.183

Review 8.  IPEX Syndrome: Genetics and Treatment Options.

Authors:  Iwona Ben-Skowronek
Journal:  Genes (Basel)       Date:  2021-02-24       Impact factor: 4.096

Review 9.  Atypical Presentations of IPEX: Expect the Unexpected.

Authors:  Filippo Consonni; Sara Ciullini Mannurita; Eleonora Gambineri
Journal:  Front Pediatr       Date:  2021-02-05       Impact factor: 3.418

Review 10.  IPEX Syndrome: Improved Knowledge of Immune Pathogenesis Empowers Diagnosis.

Authors:  Federica Barzaghi; Laura Passerini
Journal:  Front Pediatr       Date:  2021-02-22       Impact factor: 3.418
  10 in total

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