Scopus
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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
PROFESÖR HASİBE ARTAÇ →
Makale Bilgileri
DergiAsthma Allergy Immunology
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
Metrikler
1
Atıf
5
Yazar
4
Anahtar Kelime