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Article

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Journal of clinical immunology - 1 May 2018

Cagdas Deniz, Gur Cetinkaya Pınar, Karaatmaca Betül, Esenboga Saliha, Tan Cagman, Yılmaz Togay, Gümüş Ersin, Barış Safa, Kuşkonmaz Barış, Ozgur Tuba Turul, Bali Pawan, Santisteban Ines, Orhan Diclehan, Yüce Aysel, Cetinkaya Duygu, Boztug Kaan, Hershfield Michael, Sanal Ozden, Tezcan İlhan

Abstract excerpt

INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy...

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Identifiers

PMID: 29744787
DOI: 10.1007/s10875-018-0496-9

Genes

ADA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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