Scopus
🔓 Açık Erişim YÖKSİS DOI Eşleşti
SJR Q4
Purine Nucleoside Phosphorylase Deficiency Presenting with Neurological Involvement: A Case Report of Two Siblings
Asthma Allergy Immunology · Ağustos 2024
YÖKSİS Kayıtları
Purine Nucleoside Phosphorylase Deficiency Presenting with Neurological Involvement: A Case Report of Two Siblings
Asthma Allergy Immunology · 2024 ESCI
Prof. Dr. HASİBE ARTAÇ →
YÖKSİS Kayıtları — ISSN Eşleşmesi
Retrospective Evaluation of 1054 Patients with Primary Immunodeficiency
2008 ISSN: 1308-9234 Emerging Sources Citation Index
Öğr. Gör. REYHAN KARA →
The Known Genetic Defects in Common Variable Immunodeficiency
2014 ISSN: 1308-9234 Emerging Sources Citation Index
Öğr. Gör. REYHAN KARA →
Alternaria and Cladosporium spores in the atmosphere of Konya and their relationship with meteorological factors
2014 ISSN: 1308-9234 TR DİZİN
Doç. Dr. HÜLYA ÖZDEMİR →
Serum Periostin Level and Exhaled Nitric Oxide in Children with Asthma
2018 ISSN: 13089234 TR DİZİN
Prof. Dr. ALİ ÜNLÜ →
Primer İmmün Yetmezlikli 1054 Olgunun Retrospektif Değerlendirilmesi
2008 ISSN: 1308-9234 Endekste taranmıyor
Prof. Dr. ALAADDİN YORULMAZ →
Topikal Glukokortikoid Kullanımına Bağlı Cushing Sendromu
2017 ISSN: 1308-9234 ESCI
Doç. Dr. MUAMMER BÜYÜKİNAN →
An Indolent Cause of Recurrent Anaphylaxis with NSAIDs: Systemic Mastocytosis
2019 ISSN: 1308-9234 Emerging Sources Citation Index (ESCI)
Doç. Dr. ERAY YILDIZ →
Reverse Angle: Immunological Evaluation of Patients with Idiopathic Thrombocytopenic Purpura: A Retrospective Cohort Study
2019 ISSN: 1308-9234 Emerging Sources Citation Index (ESCI)
Doç. Dr. ERAY YILDIZ →
The Effect of Allergen Immunotherapy on Serum Periostin Levels in Children with Allergic Rhinitis
2019 ISSN: 1308-9234 ESCI
Dr. Öğr. Üyesi NERİMAN AKDAM →
Reverse Angle: Immunological Evaluation of Patients with Bronchiectasis
2020 ISSN: 1308-9234 Emerging Sources Citation Index (ESCI)
Doç. Dr. ERAY YILDIZ →
Five Years of Experience in a Single Center: Retrospective Analysis of Adult Patients with Common Variable Immunodeficiency
2020 ISSN: 1308-9234 Emerging Sources Citation Index (ESCI)
Doç. Dr. ERAY YILDIZ →
Bone Metabolism Alterations in Patients with Common Variable Immune Deficiency: A Retrospective Cohort Study
2020 ISSN: 1308-9234 Emerging Sources Citation Index (ESCI)
Doç. Dr. ERAY YILDIZ →
Internet Use Habits of Parents with Children Suffering from Food Allergy
2019 ISSN: 1308-9234 TR DİZİN
Doç. Dr. İLKNUR KÜLHAŞ ÇELİK →
Macrolide Allergy in Children and the Negative Predictive Value of Drug Provocation Tests in Mild Index Reactions
2021 ISSN: 1308-9234 TR DİZİN
Doç. Dr. İLKNUR KÜLHAŞ ÇELİK →
The Impact of SARS-CoV-2 Transmission Fear and the COVID-19 Pandemic on the Mental Health of Patients with Primary Immunodeficiency Disorders and Severe Asthma, and Other High-Risk Groups
2021 ISSN: 1308-9234 TR DİZİN
Doç. Dr. ERAY YILDIZ →
The Relationship Between Body-Mass Index,
Central Obesity and Asthma in Children
2021 ISSN: 1308-9234 ESCI
Doç. Dr. HÜLYA ÖZDEMİR →
Incidence of Micronucleus in Primary Immunodeficiency Diseases: Detection by Micronucleus and FISH Techniques
2009 ISSN: 1308-9234 TR DİZİN
Prof. Dr. HASAN ACAR →
Atopy and allergic diseases in immunoglobulin A deficiency
2012 ISSN: 1308-9234 E-SCI, EBSCO, TR DİZİN Q4
Prof. Dr. HASİBE ARTAÇ →
Clinical features and risk factors in children with acute asthma attack
2012 ISSN: 1308-9234 TR DİZİN
Prof. Dr. HASİBE ARTAÇ →
The demographic datas of chronic granulomatous disease patients and the comparation of the clinical datas before and after interferon-gamma treatment in our country
2013 ISSN: 1308-9234 TR DİZİN
Prof. Dr. HASİBE ARTAÇ →
Makale Bilgileri
ISSN13089234
Yayın TarihiAğustos 2024
Cilt / Sayfa22 · 213-216
Scopus ID2-s2.0-85205388995
Erişim🔓 Açık Erişim
Özet
Purine nucleoside phosphorylase (PNP) deficiency is a rare immunodeficiency syndrome generally characterized by profound T cell deficiency and variable B cell function. More than half of PNP-deficient patients present with neurological dysfunction, with manifestations such as mental and motor retardation, spasticity, hypertonia, ataxia, and behavioral disturbances. Here, we report two siblings diagnosed with PNP deficiency in early infancy. Our patients had developmental delays, and their immunological findings indicated T-B+NK+ leaky/atypical severe combined immune deficiency. The patients are being treated with regular intravenous immunoglobulin replacement, as well as trimethoprim-sulfomethoxazole and fluconazole, for prophylaxis in preparation for transplantation. These cases draw attention to the possibility of primary immune deficiency in patients with recurrent infections and lymphopenia. In addition, PNP deficiency should be kept in mind in the presence of developmental delay, low uric acid levels, and lymphopenia.
Yazarlar (5)
1
Demet Tekcan
ORCID: 0000-0003-1864-5651
2
Ilknur Kulhas Celik
ORCID: 0000-0003-3812-9654
3
Teresa K. Tarrant
ORCID: 0000-0003-4067-5363
4
Michael S. Hersfield
ORCID: 0000-0003-3589-8554
5
Hasibe Artac
Anahtar Kelimeler
Combined immune deficiency
development delay
lymphopenia
purine nucleoside phosphorylase deficiency
Kurumlar
Duke University School of Medicine
Durham United States
Selçuk Üniversitesi
Selçuklu Turkey
Scimago Dergi (ISSN Eşleşmesi)
Asthma Allergy Immunology
Q4
SJR Skoru0,170
H-Index6
ÜlkeTurkey
Immunology (Q4)
Immunology and Allergy (Q4)
Pulmonary and Respiratory Medicine (Q4)
Metrikler
2
Atıf
5
Yazar
4
Anahtar Kelime