Literature DB >> 18504682

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

A Soresina1, A Meini, V Lougaris, G Cattaneo, S Pellegrino, M Piane, F Darra, A Plebani.   

Abstract

Ataxia-telangiectasia is a rare multisystem neurodegenerative genetic disorder due to mutation of ATM gene. The clinical expression and the immunological abnormalities are variable and apparently not associated with the type of ATM mutations. We report on two siblings affected by A-T with different clinical and immunological presentations; in particular in one the immunological phenotype was reminiscent of hyper IgM syndrome.

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Year:  2008        PMID： 18504682     DOI： 10.1055/s-2008-1076736

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  11 in total

1.  Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.

Authors:  Amit Rawat; Kohsuke Imai; Deepti Suri; Anju Gupta; Swapnil Bhisikar; Biman Saikia; Ranjana W Minz; Shobha Sehgal; Surjit Singh
Journal:  Indian J Pediatr       Date:  2015-07-30       Impact factor: 1.967

Review 2.  Update on the hyper immunoglobulin M syndromes.

Authors:  E Graham Davies; Adrian J Thrasher
Journal:  Br J Haematol       Date:  2010-02-23       Impact factor: 6.998

3.  Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report.

Authors:  Laura Folgori; Alessia Scarselli; Giulia Angelino; Francesca Ferrari; Antonio Antoccia; Luciana Chessa; Andrea Finocchi
Journal:  Ital J Pediatr       Date:  2010-04-11       Impact factor: 2.638

4.  Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.

Authors:  Tomohiro Morio; Naomi Takahashi; Fumiaki Watanabe; Fumiko Honda; Masaki Sato; Masatoshi Takagi; Ken-Ichi Imadome; Toshio Miyawaki; Domenico Delia; Kotoka Nakamura; Richard A Gatti; Shuki Mizutani
Journal:  Int J Hematol       Date:  2009-08-25       Impact factor: 2.490

Review 5.  Immunoglobulin class-switch recombination deficiencies.

Authors:  Anne Durandy; Sven Kracker
Journal:  Arthritis Res Ther       Date:  2012-07-30       Impact factor: 5.156

6.  Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia.

Authors:  Anna K Meyer; Mindy Banks; Tibor Nadasdy; Jennifer J Clark; Rui Zheng; Erwin W Gelfand; Jordan K Abbott
Journal:  Front Pediatr       Date:  2019-10-24       Impact factor: 3.418

7.  Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Authors:  Tannaz Moeini Shad; Reza Yazdani; Parisa Amirifar; Samaneh Delavari; Marzieh Heidarzadeh Arani; Seyed Alireza Mahdaviani; Mahnaz Sadeghi-Shabestari; Asghar Aghamohammadi; Nima Rezaei; Hassan Abolhassani
Journal:  Front Immunol       Date:  2022-01-14       Impact factor: 7.561

8.  Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.

Authors:  Emilia Cirillo; Agata Polizzi; Luciana Chessa; Claudio Pignata; Annarosa Soresina; Rosaria Prencipe; Giuliana Giardino; Caterina Cancrini; Andrea Finocchi; Beatrice Rivalta; Rosa M Dellepiane; Lucia A Baselli; Davide Montin; Antonino Trizzino; Rita Consolini; Chiara Azzari; Silvia Ricci; Lorenzo Lodi; Isabella Quinti; Cinzia Milito; Lucia Leonardi; Marzia Duse; Maria Carrabba; Giovanna Fabio; Patrizia Bertolini; Paola Coccia; Irene D'Alba; Andrea Pession; Francesca Conti; Marco Zecca; Claudio Lunardi; Manuela Lo Bianco; Santiago Presti; Laura Sciuto; Roberto Micheli; Dario Bruzzese; Vassilios Lougaris; Raffaele Badolato; Alessandro Plebani
Journal:  J Clin Immunol       Date:  2022-03-08       Impact factor: 8.542

9.  Normal Numbers of Stem Cell Memory T Cells Despite Strongly Reduced Naive T Cells Support Intact Memory T Cell Compartment in Ataxia Telangiectasia.

Authors:  Thomas J Weitering; Janine E Melsen; Monique M van Ostaijen-Ten Dam; Corry M R Weemaes; Marco W Schilham; Mirjam van der Burg
Journal:  Front Immunol       Date:  2021-06-24       Impact factor: 7.561

10.  Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.

Authors:  Stefan Zielen; Ruth Pia Duecker; Sandra Woelke; Helena Donath; Sharhzad Bakhtiar; Aileen Buecker; Hermann Kreyenberg; Sabine Huenecke; Peter Bader; Nizar Mahlaoui; Stephan Ehl; Sabine M El-Helou; Barbara Pietrucha; Alessandro Plebani; Michiel van der Flier; Koen van Aerde; Sara S Kilic; Shereen M Reda; Larysa Kostyuchenko; Elizabeth McDermott; Nermeen Galal; Claudio Pignata; Juan Luis Santos Pérez; Hans-Juergen Laws; Tim Niehues; Necil Kutukculer; Markus G Seidel; Laura Marques; Peter Ciznar; John David M Edgar; Pere Soler-Palacín; Horst von Bernuth; Renate Krueger; Isabelle Meyts; Ulrich Baumann; Maria Kanariou; Bodo Grimbacher; Fabian Hauck; Dagmar Graf; Luis Ignacio Gonzalez Granado; Seraina Prader; Ismail Reisli; Mary Slatter; Carlos Rodríguez-Gallego; Peter D Arkwright; Claire Bethune; Elena Deripapa; Svetlana O Sharapova; Kai Lehmberg; E Graham Davies; Catharina Schuetz; Gerhard Kindle; Ralf Schubert
Journal:  J Clin Immunol       Date:  2021-09-03       Impact factor: 8.317
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