Literature DB >> 27215564

A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies.

Anoop Mistry1, David Parry2, Bipin Matthews3, Philip Laws4, Mark Goodfield4, Sinisa Savic5,6.   

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Year:  2016        PMID： 27215564     DOI： 10.1007/s10875-016-0301-6

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  13 in total

1.  H syndrome: the first 79 patients.

Authors:  Vered Molho-Pessach; Yuval Ramot; Frances Camille; Victoria Doviner; Sofia Babay; Siekavizza Juan Luis; Valentina Broshtilova; Abraham Zlotogorski
Journal:  J Am Acad Dermatol       Date:  2013-10-27       Impact factor: 11.527

2.  A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

Authors:  Emily Avitan-Hersh; Hanna Mandel; Margarita Indelman; Gad Bar-Joseph; Abraham Zlotogorski; Reuven Bergman
Journal:  Am J Dermatopathol       Date:  2011-02       Impact factor: 1.533

3.  Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.

Authors:  Etsuko Fujita; Mayumi Komine; Hidetoshi Tsuda; Akimasa Adachi; Satoru Murata; Yasuyuki Kamata; Seiji Minota; Mamitaro Ohtsuki
Journal:  J Dermatol       Date:  2015-06-13       Impact factor: 4.005

4.  H syndrome: novel and recurrent mutations in SLC29A3.

Authors:  T P Priya; N Philip; V Molho-Pessach; T Busa; A Dalal; A Zlotogorski
Journal:  Br J Dermatol       Date:  2010-02-25       Impact factor: 9.302

5.  Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.

Authors:  Chia-Lin Hsu; Weiyu Lin; Dhaya Seshasayee; Yung-Hsiang Chen; Xiao Ding; Zhonghua Lin; Eric Suto; Zhiyu Huang; Wyne P Lee; Hyunjoo Park; Min Xu; Mei Sun; Linda Rangell; Jeff L Lutman; Sheila Ulufatu; Eric Stefanich; Cecile Chalouni; Meredith Sagolla; Lauri Diehl; Paul Fielder; Brian Dean; Mercedesz Balazs; Flavius Martin
Journal:  Science       Date:  2011-12-15       Impact factor: 47.728

6.  Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

Authors:  Isabelle Melki; Karen Lambot; Laurence Jonard; Vincent Couloigner; Pierre Quartier; Bénédicte Neven; Brigitte Bader-Meunier
Journal:  Pediatrics       Date:  2013-03-25       Impact factor: 7.124

7.  Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

Authors:  Neil V Morgan; Mark R Morris; Hakan Cangul; Diane Gleeson; Anna Straatman-Iwanowska; Nicholas Davies; Stephen Keenan; Shanaz Pasha; Fatimah Rahman; Dean Gentle; Maaike P G Vreeswijk; Peter Devilee; Margaret A Knowles; Serdar Ceylaner; Richard C Trembath; Carlos Dalence; Erol Kismet; Vedat Köseoğlu; Hans-Christoph Rossbach; Paul Gissen; David Tannahill; Eamonn R Maher
Journal:  PLoS Genet       Date:  2010-02-05       Impact factor: 5.917

Review 8.  The human concentrative and equilibrative nucleoside transporter families, SLC28 and SLC29.

Authors:  James D Young; Sylvia Y M Yao; Jocelyn M Baldwin; Carol E Cass; Stephen A Baldwin
Journal:  Mol Aspects Med       Date:  2013 Apr-Jun

9.  Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome.

Authors:  Senthil Senniappan; Marina Hughes; Pratik Shah; Vanita Shah; Juan Pablo Kaski; Paul Brogan; Khalid Hussain
Journal:  J Pediatr Endocrinol Metab       Date:  2013       Impact factor: 1.634

10.  SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Authors:  Simon T Cliffe; Jamie M Kramer; Khalid Hussain; Joris H Robben; Eiko K de Jong; Arjan P de Brouwer; Esther Nibbeling; Erik-Jan Kamsteeg; Melanie Wong; Julie Prendiville; Chela James; Raja Padidela; Charlie Becknell; Hans van Bokhoven; Peter M T Deen; Raoul C M Hennekam; Robert Lindeman; Annette Schenck; Tony Roscioli; Michael F Buckley
Journal:  Hum Mol Genet       Date:  2009-03-31       Impact factor: 6.150
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  6 in total

Review 1.  Solute Carrier Nucleoside Transporters in Hematopoiesis and Hematological Drug Toxicities: A Perspective.

Authors:  Syed Saqib Ali; Ruchika Raj; Tejinder Kaur; Brenna Weadick; Debasis Nayak; Minnsung No; Jane Protos; Hannah Odom; Kajal Desai; Avinash K Persaud; Joanne Wang; Rajgopal Govindarajan
Journal:  Cancers (Basel)       Date:  2022-06-25       Impact factor: 6.575

2.  H syndrome: 5 new cases from the United States with novel features and responses to therapy.

Authors:  Jessica L Bloom; Clara Lin; Lisa Imundo; Stephen Guthery; Shelly Stepenaskie; Csaba Galambos; Amy Lowichik; John F Bohnsack
Journal:  Pediatr Rheumatol Online J       Date:  2017-10-17       Impact factor: 3.054

Review 3.  Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder.

Authors:  Özge Besci; Kashyap Amratlal Patel; Gizem Yıldız; Özlem Tüfekçi; Kübra Yüksek Acinikli; İbrahim Mert Erbaş; Ayhan Abacı; Ece Böber; Meral Torun Bayram; Şebnem Yılmaz; Korcan Demir
Journal:  Hormones (Athens)       Date:  2022-03-14       Impact factor: 3.419

4.  Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease.

Authors:  Samuel Lara-Reyna; James A Poulter; Elton J R Vasconcelos; Mark Kacar; Michael F McDermott; Reuben Tooze; Rainer Doffinger; Sinisa Savic
Journal:  J Clin Immunol       Date:  2020-12-07       Impact factor: 8.317

Review 5.  Review of the current literature on H syndrome treatment.

Authors:  Kimia Saleh Anaraki; Sepehr Khosravi; Elham Behrangi; Afsaneh Sadeghzadeh-Bazargan; Azadeh Goodarzi
Journal:  J Family Med Prim Care       Date:  2022-03-10

6.  Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia.

Authors:  Laura Ventura-Espejo; Inés Gracia-Darder; Silvia Escribá-Bori; Eva Regina Amador-González; Ana Martín-Santiago; Jan Ramakers
Journal:  Pediatr Rheumatol Online J       Date:  2021-06-30       Impact factor: 3.054
  6 in total

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