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A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.

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Date
2018-02-01
Author
AYGUN, D
Turel, O
CAMCıOGLU, Y
HERSHFIELD, M
KARDAS, M
TORUN, EMEL
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Type
Article
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Abstract
Adenosine deaminase (ADA) deficiency is among the most common causes of severe combined immunodeficiency, characterized by dysfunction of the T, B, and natural killer (NK) cells (T-B-NK-SCID) and severe lymphopenia.1 ADA is a key enzyme in the purine salvage pathway, the absence of which causes lymph-toxic deoxyadenosine triphospate (dATP) accumulation, inhibiting ribonucleotide reductase, a critical enzyme for DNA replication and repair. This effect impairs the lymphocyte development and function resulting in severe combined immune deficiency (SCID).1,2 ADA deficiency is autosomal recessively inherited through mutations in the ADA gene, which is located on chromosome 20q13.12. Herein, we will describe the identification of a novel splicing mutation in the ADA gene in a patient with SCID
Subject
Turel O., AYGUN D., KARDAS M., TORUN E., HERSHFIELD M., CAMCıOGLU Y., -A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.-, Pediatrics and neonatology, cilt.59, ss.97-99, 2018
URI
https://hdl.handle.net/20.500.12645/6067
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  • Yayınlar - Eserler [9994]

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BEZMIALEM VAKIF UNIVERSITY

About us |Policies | Library | Contact us | Send Feedback | Sitemap | Admin

Bezmialem Vakıf Üniversitesi, Adnan Menderes Bulvarı Vatan Caddesi 34093 Fatih, İstanbul / TURKEY
Copyright © Bezmialem Vakıf Üniversitesi

Creative Commons Lisansı
Bezmialem Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

OpenAccess@BVU

Support by  UNIREPOS