ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes.

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Abstract

To describe the clinical features, genotype, and treatment approaches of patients with confirmed adenosine deaminase 2 (ADA2) deficiency with dissimilar phenotypes.

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Author and article information

Journal

Journal ID (iso-abbrev): J Clin Immunol

Title: Journal of clinical immunology

Publisher: Springer Science and Business Media LLC

ISSN (Electronic): 1573-2592

ISSN (Print): 0271-9142

Publication date (Electronic): February 2020

Volume: 40

Issue: 2

Affiliations

[1 ] Department of Pediatric Rheumatology, Kanuni Sultan Süleyman Research and Training Hospital, University of Health Sciences, Istanbul, Turkey.

[2 ] Department of Pediatric Rheumatology, Ümraniye Research and Training Hospital, University of Health Sciences, Istanbul, Turkey.

[3 ] Department of Pediatric Genetics, Ümraniye Research and Training Hospital, University of Health Sciences, Istanbul, Turkey.

[4 ] Department of Pediatric Rheumatology, Kanuni Sultan Süleyman Research and Training Hospital, University of Health Sciences, Istanbul, Turkey. nurayaktay@gmail.com.