Literature DB >> 32659374

Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations.

F Saettini1, G Fazio2, P Corti3, M Quadri2, C Bugarin2, G Gaipa2, F Penco4, D Moratto5, M Chiarini5, M Baronio6, L Gazzurelli6, L Imberti7, S Paghera7, S Giliani6, G Cazzaniga8, A Plebani6, R Badolato6, V Lougaris6, M Gattorno4, A Biondi9.   

Abstract

The presence of large granular lymphocytes has been reported in patients with ADA2 deficiency and T-LGL leukemia. Here we describe two siblings with novel ADA2 variants, expanding the mutational spectrum of ADA2 deficiency. We show that lymphoproliferation, persistence of large granular lymphocytes, T-cell perturbations, and activation of PI3K pathway, measured by means of phosphorylation levels of S6, are detectable in DADA2 patients without T-LGL leukemia.
Copyright © 2020 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ADA2 deficiency; DADA2; Hypogammaglobulinemia; Large granular lymphocytes; Lymphopenia; Lymphoproliferation; T-cell repertoire

Year:  2020        PMID： 32659374     DOI： 10.1016/j.clim.2020.108525

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


  7 in total

Review 1.  Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.

Authors:  Benzeeta Pinto; Prateek Deo; Susmita Sharma; Arshi Syal; Aman Sharma
Journal:  Clin Rheumatol       Date:  2021-03-31       Impact factor: 2.980

2.  Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.

Authors:  Francesco Saettini; Grazia Fazio; Daniele Moratto; Marta Galbiati; Nicola Zucchini; Davide Ippolito; Marco Emilio Dinelli; Luisa Imberti; Mario Mauri; Maria Luisa Melzi; Sonia Bonanomi; Alessio Gerussi; Marinella Pinelli; Chiara Barisani; Cristina Bugarin; Marco Chiarini; Mauro Giacomelli; Rocco Piazza; Giovanni Cazzaniga; Pietro Invernizzi; Silvia Clara Giliani; Raffaele Badolato; Andrea Biondi
Journal:  Front Immunol       Date:  2021-04-16       Impact factor: 7.561

3.  Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.

Authors:  Stuart G Tangye; Isabelle Meyts; Jin Yan Yap; Leen Moens; Ming-Wei Lin; Alisa Kane; Anthony Kelleher; Catherine Toong; Kathy H C Wu; William A Sewell; Tri Giang Phan; Georgina E Hollway; Karen Enthoven; Paul E Gray; Jose Casas-Martin; Carine Wouters; Lien De Somer; Michael Hershfield; Giorgia Bucciol; Selket Delafontaine; Cindy S Ma
Journal:  J Clin Immunol       Date:  2021-10-17       Impact factor: 8.317

Review 4.  Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.

Authors:  Sara Signa; Arinna Bertoni; Federica Penco; Roberta Caorsi; Alessia Cafaro; Giuliana Cangemi; Stefano Volpi; Marco Gattorno; Francesca Schena
Journal:  Front Immunol       Date:  2022-07-11       Impact factor: 8.786

5.  ELISA based assays to measure adenosine deaminases concentration in serum and saliva for the diagnosis of ADA2 deficiency and cancer.

Authors:  Wenwen Luo; Liang Dong; Fenghong Chen; Wenbin Lei; Liya He; Qing Zhou; Thierry Lamy; Andrey V Zavialov
Journal:  Front Immunol       Date:  2022-07-28       Impact factor: 8.786

6.  Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency.

Authors:  Federica Barzaghi; Maria Pia Cicalese; Matteo Zoccolillo; Immacolata Brigida; Matteo Barcella; Ivan Merelli; Claudia Sartirana; Monica Zanussi; Valeria Calbi; Maria Ester Bernardo; Francesca Tucci; Maddalena Migliavacca; Fabio Giglio; Matteo Doglio; Daniele Canarutto; Francesca Ferrua; Giulia Consiglieri; Giulia Prunotto; Francesco Saettini; Sonia Bonanomi; Patrizia Rovere-Querini; Giulia Di Colo; Tatiana Jofra; Georgia Fousteri; Federica Penco; Marco Gattorno; Michael S Hershfield; Lucia Bongiovanni; Maurilio Ponzoni; Sarah Marktel; Raffaella Milani; Jacopo Peccatori; Fabio Ciceri; Alessandra Mortellaro; Alessandro Aiuti
Journal:  Front Immunol       Date:  2022-09-29       Impact factor: 8.786

7.  Plasma Adenosine Deaminase (ADA)-1 and -2 Demonstrate Robust Ontogeny Across the First Four Months of Human Life.

Authors:  Oludare A Odumade; Alec L Plotkin; Jensen Pak; Olubukola T Idoko; Matthew A Pettengill; Tobias R Kollmann; Al Ozonoff; Beate Kampmann; Ofer Levy; Kinga K Smolen
Journal:  Front Immunol       Date:  2021-05-27       Impact factor: 7.561
  7 in total

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