Literature DB >> 23672263

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

Miriam Entesarian, Samuel C C Chiang, Heinrich Schlums, Marie Meeths, Mei-Yoke Chan, Soe-Nwe Mya, Shui-Yen Soh, Magnus Nordenskjöld, Jan-Inge Henter, Yenan T Bryceson.   

Abstract

Entities:  

Keywords:  NK cells; T cells; UNC13D (Munc13-4); deep intronic mutation; familial haemophagocytic lymphohistiocytosis

Mesh：

Substances：

Year:  2013        PMID： 23672263     DOI： 10.1111/bjh.12371

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  13 in total

1.  Brief Report: Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis.

Authors:  Grant S Schulert; Mingce Zhang; Ammar Husami; Ndate Fall; Hermine Brunner; Kejian Zhang; Randy Q Cron; Alexei A Grom
Journal:  Arthritis Rheumatol       Date:  2018-05-02       Impact factor: 10.995

2.  Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects.

Authors:  Sarah E Takushi; Na Yoon Paik; Andrew Fedanov; Chengyu Prince; Christopher B Doering; H Trent Spencer; Shanmuganathan Chandrakasan
Journal:  Hum Gene Ther       Date:  2020-06       Impact factor: 5.695

3.  Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

Authors:  Sandra Ammann; Kai Lehmberg; Udo Zur Stadt; Christian Klemann; Sebastian F N Bode; Carsten Speckmann; Gritta Janka; Katharina Wustrau; Mirzokhid Rakhmanov; Ilka Fuchs; Hans C Hennies; Stephan Ehl
Journal:  J Clin Immunol       Date:  2017-09-21       Impact factor: 8.317

Review 4.  Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.

Authors:  Elena Sieni; Valentina Cetica; Yvonne Hackmann; Maria Luisa Coniglio; Martina Da Ros; Benedetta Ciambotti; Daniela Pende; Gillian Griffiths; Maurizio Aricò
Journal:  Front Immunol       Date:  2014-04-16       Impact factor: 7.561

5.  Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.

Authors:  Frank Cichocki; Heinrich Schlums; Hongchuan Li; Vanessa Stache; Timothy Holmes; Todd R Lenvik; Samuel C C Chiang; Jeffrey S Miller; Marie Meeths; Stephen K Anderson; Yenan T Bryceson
Journal:  J Exp Med       Date:  2014-05-19       Impact factor: 14.307

6.  Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Authors:  Bianca Tesi; Kristina Lagerstedt-Robinson; Samuel C C Chiang; Eya Ben Bdira; Miguel Abboud; Burcu Belen; Omer Devecioglu; Zehra Fadoo; Allen E J Yeoh; Hans Christian Erichsen; Merja Möttönen; Himmet Haluk Akar; Johanna Hästbacka; Zuhre Kaya; Susana Nunes; Turkan Patiroglu; Magnus Sabel; Ebru Tugrul Saribeyoglu; Tor Henrik Tvedt; Ekrem Unal; Sule Unal; Aysegul Unuvar; Marie Meeths; Jan-Inge Henter; Magnus Nordenskjöld; Yenan T Bryceson
Journal:  Genome Med       Date:  2015-12-18       Impact factor: 11.117

7.  Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.

Authors:  Donatella Galgano; Tayebeh Soheili; Matthias Voss; Lamberto Torralba-Raga; Bianca Tesi; Frank Cichocki; Isabelle Andre; Jens Rettig; Marina Cavazzana; Yenan Bryceson
Journal:  Front Immunol       Date:  2020-06-09       Impact factor: 7.561

8.  Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Authors:  Francesc Rudilla; Clara Franco-Jarava; Mónica Martínez-Gallo; Marina Garcia-Prat; Andrea Martín-Nalda; Jacques Rivière; Aina Aguiló-Cucurull; Laura Mongay; Francisco Vidal; Xavier Solanich; Iñaki Irastorza; Juan Luis Santos-Pérez; Jesús Tercedor Sánchez; Ivon Cuscó; Clara Serra; Noelia Baz-Redón; Mónica Fernández-Cancio; Carmen Carreras; José Manuel Vagace; Vicenç Garcia-Patos; Ricardo Pujol-Borrell; Pere Soler-Palacín; Roger Colobran
Journal:  Front Immunol       Date:  2019-10-01       Impact factor: 7.561

9.  Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.

Authors:  Yuanyuan Chen; Zhujun Wang; Zebin Luo; Ning Zhao; Shilong Yang; Yongmin Tang
Journal:  Ital J Pediatr       Date:  2016-05-21       Impact factor: 2.638

Review 10.  Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.

Authors:  Giorgia Bucciol; Isabelle Meyts
Journal:  F1000Res       Date:  2020-03-19
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