Literature DB >> 29956078

Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution.

Marcus A Carden1, James A Connelly2, Elizabeth P Weinzierl3, Lisa J Kobrynski4, Shanmuganathan Chandrakasan5.   

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Year:  2018        PMID： 29956078     DOI： 10.1007/s10875-018-0518-7

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


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  9 in total

1.  Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly.

Authors:  Ales Janda; Petr Sedlacek; Manfred Hönig; Wilhelm Friedrich; Martin Champagne; Tadashi Matsumoto; Alain Fischer; Benedicte Neven; Audrey Contet; Danielle Bensoussan; Pierre Bordigoni; David Loeb; William Savage; Nada Jabado; Francisco A Bonilla; Mary A Slatter; E Graham Davies; Andrew R Gennery
Journal:  Blood       Date:  2010-06-07       Impact factor: 22.113

Review 2.  Suppression assays with human T regulatory cells: a technical guide.

Authors:  Alicia N McMurchy; Megan K Levings
Journal:  Eur J Immunol       Date:  2011-12-12       Impact factor: 5.532

3.  Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome.

Authors:  Brian E Tison; Sarah K Nicholas; Stuart L Abramson; Imelda C Hanson; Mary E Paul; Filiz O Seeborg; William T Shearer; Maria D Perez; Lenora M Noroski; Javier Chinen
Journal:  J Allergy Clin Immunol       Date:  2011-08-11       Impact factor: 10.793

Review 4.  Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  Donna M McDonald-McGinn; Kathleen E Sullivan
Journal:  Medicine (Baltimore)       Date:  2011-01       Impact factor: 1.889

5.  Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome.

Authors:  Daiei Kojima; Hideki Muramatsu; Yusuke Okuno; Shinsuke Kataoka; Norihiro Murakami; Yoshihiro Tanahashi; Kyogo Suzuki; Tamaki Kato; Yuko Sekiya; Nozomu Kawashima; Atsushi Narita; Nobuhiro Nishio; Asahito Hama; Kohsuke Imai; Shigeaki Nonoyama; Yoshiyuki Takahashi; Seiji Kojima
Journal:  J Allergy Clin Immunol       Date:  2016-06-16       Impact factor: 10.793

6.  Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.

Authors:  David T Okou; Kajari Mondal; William A Faubion; Lisa J Kobrynski; Lee A Denson; Jennifer G Mulle; Dhanya Ramachandran; Yuning Xiong; Phyllis Svingen; Viren Patel; Promita Bose; Jon P Waters; Sampath Prahalad; David J Cutler; Michael E Zwick; Subra Kugathasan
Journal:  J Pediatr Gastroenterol Nutr       Date:  2014-05       Impact factor: 2.839

Review 7.  Primary immunodeficiencies.

Authors:  Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2009-12-29       Impact factor: 10.793

8.  Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Authors:  Raphael Carapito; Martina Konantz; Catherine Paillard; Zhichao Miao; Angélique Pichot; Magalie S Leduc; Yaping Yang; Katie L Bergstrom; Donald H Mahoney; Deborah L Shardy; Ghada Alsaleh; Lydie Naegely; Aline Kolmer; Nicodème Paul; Antoine Hanauer; Véronique Rolli; Joëlle S Müller; Elisa Alghisi; Loïc Sauteur; Cécile Macquin; Aurore Morlon; Consuelo Sebastia Sancho; Patrizia Amati-Bonneau; Vincent Procaccio; Anne-Laure Mosca-Boidron; Nathalie Marle; Naël Osmani; Olivier Lefebvre; Jacky G Goetz; Sule Unal; Nurten A Akarsu; Mirjana Radosavljevic; Marie-Pierre Chenard; Fanny Rialland; Audrey Grain; Marie-Christine Béné; Marion Eveillard; Marie Vincent; Julien Guy; Laurence Faivre; Christel Thauvin-Robinet; Julien Thevenon; Kasiani Myers; Mark D Fleming; Akiko Shimamura; Elodie Bottollier-Lemallaz; Eric Westhof; Claudia Lengerke; Bertrand Isidor; Seiamak Bahram
Journal:  J Clin Invest       Date:  2017-10-03       Impact factor: 14.808

9.  Thymus transplantation for complete DiGeorge syndrome: European experience.

Authors:  E Graham Davies; Melissa Cheung; Kimberly Gilmour; Jesmeen Maimaris; Joe Curry; Anna Furmanski; Neil Sebire; Neil Halliday; Konstantinos Mengrelis; Stuart Adams; Jolanta Bernatoniene; Ronald Bremner; Michael Browning; Blythe Devlin; Hans Christian Erichsen; H Bobby Gaspar; Lizzie Hutchison; Winnie Ip; Marianne Ifversen; T Ronan Leahy; Elizabeth McCarthy; Despina Moshous; Kim Neuling; Malgorzata Pac; Alina Papadopol; Kathryn L Parsley; Luigi Poliani; Ida Ricciardelli; David M Sansom; Tiia Voor; Austen Worth; Tessa Crompton; M Louise Markert; Adrian J Thrasher
Journal:  J Allergy Clin Immunol       Date:  2017-04-08       Impact factor: 10.793
  9 in total
  4 in total

1.  SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.

Authors:  Christoph Schürch; Thorsten Schaefer; Joëlle S Müller; Pauline Hanns; Marlon Arnone; Alain Dumlin; Jonas Schärer; Irmgard Sinning; Klemens Wild; Julia Skokowa; Karl Welte; Raphael Carapito; Seiamak Bahram; Martina Konantz; Claudia Lengerke
Journal:  Blood       Date:  2021-03-11       Impact factor: 22.113

2.  Acute myeloid leukemia in SRP54-mutated congenital neutropenia.

Authors:  Anthony Sabulski; David D Grier; Kasiani C Myers; Stella M Davies; Jeremy D Rubinstein
Journal:  EJHaem       Date:  2022-03-16

3.  NUP-98 Rearrangements Led to the Identification of Candidate Biomarkers for Primary Induction Failure in Pediatric Acute Myeloid Leukemia.

Authors:  Vincenza Barresi; Virginia Di Bella; Nellina Andriano; Anna Provvidenza Privitera; Paola Bonaccorso; Manuela La Rosa; Valeria Iachelli; Giorgia Spampinato; Giulio Pulvirenti; Chiara Scuderi; Daniele F Condorelli; Luca Lo Nigro
Journal:  Int J Mol Sci       Date:  2021-04-27       Impact factor: 5.923

4.  Case Report: Association between cyclic neutropenia and SRP54 deficiency.

Authors:  Melinda Erdős; Oksana Boyarchuk; László Maródi
Journal:  Front Immunol       Date:  2022-09-08       Impact factor: 8.786
  4 in total

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