Literature DB >> 30924144

Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2).

Rohit R Ghurye1, Kruthika Sundaram1,2, Frances Smith1,2, Barnaby Clark1,3, Michael A Simpson4, Lynette Fairbanks5, Zoe Adhya1, Ghulam J Mufti6, Judith C W Marsh6, Mohammad A A Ibrahim1.   

Abstract

Entities:  

Keywords:  zzm321990ADA2zzm321990; bone marrow hypocellularity; c.1057T>C; deficiency of adenosine deaminase 2 (DADA2); neutropenia; p.(Tyr353His)

Mesh：

Substances：

Year:  2019        PMID： 30924144     DOI： 10.1111/bjh.15896

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


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  6 in total

Review 1.  Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Authors:  Rakesh Kumar Pilania; Aaqib Zaffar Banday; Saniya Sharma; Rajni Kumrah; Vibhu Joshi; Sathish Loganathan; Manpreet Dhaliwal; Ankur Kumar Jindal; Pandiarajan Vignesh; Deepti Suri; Amit Rawat; Surjit Singh
Journal:  Front Immunol       Date:  2022-05-03       Impact factor: 8.786

2.  Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

Authors:  Pui Y Lee; Erinn S Kellner; Yuelong Huang; Elissa Furutani; Zhengping Huang; Wayne Bainter; Mohammed F Alosaimi; Kelsey Stafstrom; Craig D Platt; Tali Stauber; Somech Raz; Irit Tirosh; Aaron Weiss; Michael B Jordan; Christa Krupski; Despina Eleftheriou; Paul Brogan; Ali Sobh; Zeina Baz; Gerard Lefranc; Carla Irani; Sara S Kilic; Rasha El-Owaidy; M R Lokeshwar; Pallavi Pimpale; Raju Khubchandani; Eugene P Chambers; Janet Chou; Raif S Geha; Peter A Nigrovic; Qing Zhou
Journal:  J Allergy Clin Immunol       Date:  2020-01-13       Impact factor: 10.793

Review 3.  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

4.  Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.

Authors:  Reem Albalawi; Ehab Hanafy; Haifa Alnafea; Mohammed Altowijiry; Shaima Riyad; Fadwa Abufara; Naif Albolowi
Journal:  J Investig Med High Impact Case Rep       Date:  2021 Jan-Dec

5.  Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.

Authors:  Sarah M Bowers; Martina Sundqvist; Paul Dancey; David A Cabral; Kelly L Brown
Journal:  Front Immunol       Date:  2022-09-30       Impact factor: 8.786

Review 6.  The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.

Authors:  Jennifer Lee Kendall; Jason Michael Springer
Journal:  Curr Rheumatol Rep       Date:  2020-08-26       Impact factor: 4.592
  6 in total

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