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

Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure red cell aplasia (PRCA) and neutropenia. An autoinfl...

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Autores principales:	Reem Albalawi MSc, Ehab Hanafy MD, Haifa Alnafea PhD, Mohammed Altowijiry MD, Shaima Riyad MD, Fadwa Abufara MD, Naif Albolowi MD
Formato:	article
Lenguaje:	EN
Publicado:	SAGE Publishing 2021
Materias:	Medicine (General) R5-920 Pathology RB1-214
Acceso en línea:	https://doaj.org/article/ad6b954fe20741a2ac62a00ed2a17a73
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spelling	oai:doaj.org-article:ad6b954fe20741a2ac62a00ed2a17a732021-12-01T02:04:07ZNovel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations2324-709610.1177/23247096211056770https://doaj.org/article/ad6b954fe20741a2ac62a00ed2a17a732021-11-01T00:00:00Zhttps://doi.org/10.1177/23247096211056770https://doaj.org/toc/2324-7096Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure red cell aplasia (PRCA) and neutropenia. An autoinflammatory disorder known as deficiency of adenosine deaminase 2 (DADA2) has been recently noticed to present with variable hematologic abnormalities. We report 2 patients who presented with hematologic abnormalities in which 2 ADA2 gene mutations were detected. The first case is a 5-year-old girl who presented with severe PRCA and autoimmune hemolytic anemia without any other manifestation of DADA2 that resulted from a novel CECR1 c.714_738dup, p. (Ala247Glnfs16) homozygous variant. The second case is a 10-year-old boy, known to have Hodgkin lymphoma and was under follow-up for 6 years; he presented with persistent neutropenia and was discovered to be homozygous for ADA2 c.1447_1451del, p. (Ser483Profs5). In conclusion, we report two different novels ADA2 variants in two children; the first presented with PRCA and the second presented with persistent neutropenia. This report aims to raise the concerns regarding the use of genetic testing in different hematologic diseases with indefinite etiology, as it will lead to the best therapeutic strategies without the need for unnecessary interventions.Reem Albalawi MScEhab Hanafy MDHaifa Alnafea PhDMohammed Altowijiry MDShaima Riyad MDFadwa Abufara MDNaif Albolowi MDSAGE PublishingarticleMedicine (General)R5-920PathologyRB1-214ENJournal of Investigative Medicine High Impact Case Reports, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine (General) R5-920 Pathology RB1-214
spellingShingle	Medicine (General) R5-920 Pathology RB1-214 Reem Albalawi MSc Ehab Hanafy MD Haifa Alnafea PhD Mohammed Altowijiry MD Shaima Riyad MD Fadwa Abufara MD Naif Albolowi MD Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations
description	Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure red cell aplasia (PRCA) and neutropenia. An autoinflammatory disorder known as deficiency of adenosine deaminase 2 (DADA2) has been recently noticed to present with variable hematologic abnormalities. We report 2 patients who presented with hematologic abnormalities in which 2 ADA2 gene mutations were detected. The first case is a 5-year-old girl who presented with severe PRCA and autoimmune hemolytic anemia without any other manifestation of DADA2 that resulted from a novel CECR1 c.714_738dup, p. (Ala247Glnfs16) homozygous variant. The second case is a 10-year-old boy, known to have Hodgkin lymphoma and was under follow-up for 6 years; he presented with persistent neutropenia and was discovered to be homozygous for ADA2 c.1447_1451del, p. (Ser483Profs5). In conclusion, we report two different novels ADA2 variants in two children; the first presented with PRCA and the second presented with persistent neutropenia. This report aims to raise the concerns regarding the use of genetic testing in different hematologic diseases with indefinite etiology, as it will lead to the best therapeutic strategies without the need for unnecessary interventions.
format	article
author	Reem Albalawi MSc Ehab Hanafy MD Haifa Alnafea PhD Mohammed Altowijiry MD Shaima Riyad MD Fadwa Abufara MD Naif Albolowi MD
author_facet	Reem Albalawi MSc Ehab Hanafy MD Haifa Alnafea PhD Mohammed Altowijiry MD Shaima Riyad MD Fadwa Abufara MD Naif Albolowi MD
author_sort	Reem Albalawi MSc
title	Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations
title_short	Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations
title_full	Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations
title_fullStr	Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations
title_full_unstemmed	Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations
title_sort	novel adenosine deaminase 2 (ada2) mutations associated with hematological manifestations
publisher	SAGE Publishing
publishDate	2021
url	https://doaj.org/article/ad6b954fe20741a2ac62a00ed2a17a73
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Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations

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