Adenosine deaminase 2 deficiency with a novel variant of CECR1 gene mutation: Responding to tumor necrosis factor antagonist therapy

Adenosine deaminase 2 deficiency with a novel variant of CECR1 gene mutation: Responding to tumor necrosis factor antagonist therapy

Deficiency of Adenosine deaminase 2 (DADA2) syndrome is a chronic, systemic, and inflammatory disorder, characterized by early-onset recurrent strokes, fever, livedo reticularis, and immunodeficiency. We report the case of a 4-year-old child, a product of consanguineous marriage, who presented with...

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Bibliographic Details
Main Authors: Zakiya Saleh Al Mosawi, Hiba Omar Abduljawad, Maryam Yusuf Busehail, Barrak Mahmood Al Moosawi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Indian Journal of Rheumatology
Subjects:
adenosine deaminase deficiency
anti-tumor necrosis factor therapy
cat eye syndrome chromosome region
candidate 1 mutation
livedo reticularis
Online Access:http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2019;volume=14;issue=3;spage=236;epage=240;aulast=Al

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http://www.indianjrheumatol.com/article.asp?issn=0973-3698;year=2019;volume=14;issue=3;spage=236;epage=240;aulast=Al

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