Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections-Reference-Cited by-同舟云学术

Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections

Published:2015-10-26 Issue:1 Volume:7 Page:79-82
ISSN:1759-1961
Container-title:Clinical and Experimental Neuroimmunology
language:en
Short-container-title:Clin Exp Neuroimmunol

Author:

Kiykim Ayca¹^ORCID,Simsek Isil Eser²,Kiykim Ertugrul³,Karakoc-Aydiner Elif¹,Baris Safa¹,Ozen Ahmet Oguzhan¹,Aydogan Metin²,Santisteban Ines⁴,Hershfield Michael⁴,Barlan Isil¹

Affiliation:

1. Division of Pediatric Allergy and Immunology; Marmara University; Istanbul Turkey

2. Division of Pediatric Allergy and Immunology; Kocaeli University; Kocaeli Turkey

3. Division of Pediatric Nutrition and Metabolism; Cerrahpaşa Faculty of Medicine; Istanbul University; Istanbul Turkey

4. Department of Medicine; Duke University School of Medicine; Durham North Carolina USA

Publisher

Wiley

Subject

Neurology (clinical),Immunology and Microbiology (miscellaneous),Immunology,Neuroscience (miscellaneous)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen3.12254/fullpdf

Reference13 articles.

1. Immunodeficiency caused by purine nucleotide phosphorylase deficiency;Cohen;Immunol Allergy Clin North Am,2000

2. Pediatric neurological syndromes and inborn errors of purine metabolism;Camici;Neurochem Int,2010

3. Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections;Ozkinay;J Child Neurol,2007

4. Primary immunodeficiency diseases associated with neurologic manifestations;Dehkordy;J Clin Immunol,2012

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution;Journal of Clinical Immunology;2024-05-28

2. Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975–2022);Journal of Clinical Immunology;2023-06-16

3. A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma;Journal of Clinical Immunology;2020-06-08

4. The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature;Immunological Investigations;2019-03-19