Works matching Purine nucleoside phosphorylase deficiency

Results: 68

Çocuklarda sık yineleyen enfeksiyonlar, nörolojik bulgular, serum ürik asit düşüklüğü ve lenfopeni: Pürin nükleozid fosforilaz eksikliği, çocukluk çağı acil hastalıklarından biri.

Published in:

Türk Pediatri Arşivi, 2020, v. 55, n. 3, p. 320, doi. 10.14744/TurkPediatriArs.2019.83788

By:

Kütükçüler, Necil;
Bölük, Ezgi;
Tökmeci, Nazan;
Karaca, Neslihan Edeer;
Azarsız, Elif;
Aksu, Güzide;
Aykut, Ayça

Publication type:

Article

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 62, doi. 10.3390/ijns7040062

By:

Martín-Nalda, Andrea;
Rivière, Jacques G.;
Català-Besa, Mireia;
García-Prat, Marina;
Parra-Martínez, Alba;
Martínez-Gallo, Mónica;
Colobran, Roger;
Argudo-Ramírez, Ana;
Marín-Soria, Jose Luis;
García-Villoria, Judit;
Alonso, Laura;
Arranz-Amo, Jose Antonio;
la Marca, Giancarlo;
Soler-Palacín, Pere

Publication type:

Article

Purine nucleoside phosphorylase deficiency with fatal course in two sisters.

Published in:

2010

By:

Aytekin, Caner;
Dogu, Figen;
Guloglu, Deniz;
Santisteban, Ines;
Hershfield, Michael S.;
Ikinciogullari, Aydan;
Tanir, Gonul

Publication type:

journal article

The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.

Published in:

2017

By:

Martin, Jessica;
Sharma, Richa;
Nelson, Robert P.;
Schubert, Frank;
Weida, Jennifer

Publication type:

Case Study

The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.

Published in:

2016

By:

Martin, Jessica;
Sharma, Richa;
Nelson, Robert P.;
Schubert, Frank;
Weida, Jennifer

Publication type:

Case Study

Purine Nucleoside Phosphorylase Deficiency Presenting with Neurological Involvement: A Case Report of Two Siblings.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2024, v. 22, n. 2, p. 213, doi. 10.21911/aai.2024.535

By:

TEKCAN, Demet;
CELIK, Ilknur KULHAS;
TARRANT, Teresa K.;
HERSFIELD, Michael S.;
ARTAC, Hasibe

Publication type:

Article

Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.

Published in:

Archives of Iranian Medicine (AIM), 2023, v. 26, n. 12, p. 712, doi. 10.34172/aim.2023.105

By:

Alizadeh, Zahra;
Badalzadeh, Mohsen;
Heydarlou, Hanieh;
Shakerian, Leila;
Rad, Maryam Mahlooji;
Zandieh, Fariborz;
Fazlollahi, Mohammad Reza

Publication type:

Article

Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.

Published in:

Pediatrics International, 2002, v. 44, n. 3, p. 333, doi. 10.1046/j.1442-200X.2002.01543.x

By:

Tsuda, Masahiko;
Horinouchi, Kenichi;
Sakiyama, Takeshi;
Owada, Misao

Publication type:

Article

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry.

Published in:

Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 4, p. 627, doi. 10.1515/cclm-2015-0436

By:

la Marca, Giancarlo;
Giocaliere, Elisa;
Malvagia, Sabrina;
Villanelli, Fabio;
Funghini, Silvia;
Ombrone, Daniela;
Bona, Maria Della;
Forni, Giulia;
Canessa, Clementina;
Ricci, Silvia;
Romano, Francesca;
Guerrini, Renzo;
Resti, Massimo;
Azzari, Chiara

Publication type:

Article

Purine Nucleoside Phosphorylase Deficiency in a Patient With Spastic Paraplegia and Recurrent Infections.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 6, p. 741, doi. 10.1177/0883073807302617

By:

Ozkinay, Ferda;
Pehlivan, Sacide;
Onay, Huseyin;
van Den Berg, Paul;
Vardar, Fadil;
Koturoglu, Guldane;
Aksu, Guzide;
Unal, Durisehvar;
Tekgul, Hasan;
Can, Sema;
Ozkinay, Cihangir

Publication type:

Article

The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.

Published in:

Immunological Investigations, 2019, v. 48, n. 4, p. 410, doi. 10.1080/08820139.2019.1570249

By:

Fekrvand, Saba;
Yazdani, Reza;
Abolhassani, Hassan;
Ghaffari, Javad;
Aghamohammadi, Asghar

Publication type:

Article

An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.

Published in:

Pediatric Transplantation, 2008, v. 12, n. 4, p. 479, doi. 10.1111/j.1399-3046.2007.00890.x

By:

Aytekin, Caner;
Yuksek, Mutlu;
Dogu, Figen;
Yagmurlu, Aydin;
Yildiran, Alisan;
Fitoz, Suat;
Kologlu, Meltem;
Babacan, Emel;
Hershfield, Michael S.;
Ikinciogullari, Aydan

Publication type:

Article

Purine nucleoside phosphorylase (PNP) deficiency: across-the-board severe combined immunodeficiency.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00581-8

By:

Chohayeb, Engy A.;
Lotfy, Sohilla;
El Hawary, Rabab E.;
Meshaal, Safa S.;
Mansour, Iman A.;
Galal, Nermeen M.;
Elmarsafy, Aisha M.

Publication type:

Article

Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2062, doi. 10.1007/s10875-023-01585-6

By:

Karaaslan, Betul Gemici;
Turan, Isilay;
Aydemir, Sezin;
Meric, Zeynep Akyuncu;
Atay, Didem;
Akcay, Arzu;
Sari, Aysun Ayaz;
Hershfield, Michael;
Cipe, Funda;
Aksoy, Basak Adakli;
Ersoy, Gizem Zengin;
Bozkurt, Ceyhun;
Demirkol, Yasemin Kendir;
Ozturk, Gulyuz;
Aydogmus, Cigdem;
Kiykim, Ayca;
Cokugras, Haluk

Publication type:

Article

A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency.

Published in:

Pediatric Transplantation, 2015, v. 19, n. 2, p. E47, doi. 10.1111/petr.12413

By:

Celmeli, Fatih;
Turkkahraman, Doga;
Uygun, Vedat;
Marca, Giancarlo;
Hershfield, Michael;
Yesilipek, Akif

Publication type:

Article

Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.

Published in:

Pediatric Transplantation, 2007, v. 11, n. 7, p. 799, doi. 10.1111/j.1399-3046.2007.00772.x

By:

Delicou, Sophia;
Kitra-Roussou, Vassiliki;
Peristeri, Julia;
Goussetis, Eugenios;
Vessalas, George;
Rigatou, Eftymia;
Psychou, Fotini;
Salavoura, Katerina;
Grafakos, Stelios

Publication type:

Article

Deficiency of purine nucleoside phosphorylase activity in thymocytes from the immunodeficient diabetic BB rat.

Published in:

Clinical & Experimental Immunology, 1991, v. 86, n. 2, p. 260

By:

Wu, G.;
Marless, E. B.

Publication type:

Article

A canine model of induced purine nucleoside phosphorylase deficiency.

Published in:

Clinical & Experimental Immunology, 1986, v. 66, n. 1, p. 166

By:

Osborne, W. R. A.;
Deeg, H. J.;
Slichter, Sherrill J.

Publication type:

Article

Phosphorylation of deoxyguanosine by B and T lymphocytes: evidence against selective trapping of deoxyguanosine by T lymphocytes in purine nucleoside phosphorylase deficiency.

Published in:

Clinical & Experimental Immunology, 1980, v. 42, n. 3, p. 523

By:

North, M. E.;
Newton, C. A.;
Webster, A. D. B.

Publication type:

Article

Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency.

Published in:

Clinical & Experimental Immunology, 1978, v. 34, n. 1, p. 42

By:

Simmonds, H. Anne;
Potter, C. F.;
Sahota, A.;
Cameron, J. S.;
Webster, D. R.;
Becroft, D. M. O.

Publication type:

Article

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 12, p. 1243, doi. 10.1080/15257770.2011.630852

By:

Walker, P.L. C.;
Corrigan, Adele;
Arenas, Monica;
Escuredo, Emilia;
Fairbanks, Lynette;
Marinaki, Anthony

Publication type:

Article

Identification of Purine Nucleoside Phosphorylase Deficiency in Dried Blood Spots by a Non-Radiochemical Assay Using Reversed-Phase High-Performance Liquid Chromatography.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2010, v. 29, n. 4-6, p. 466, doi. 10.1080/15257771003741455

By:

van Kuilenburg, A.B. P.;
Zoetekouw, L.;
Meijer, J.;
Kuijpers, T.W.

Publication type:

Article

Novel Mutations and Hot-Spots in Patients with Purine Nucleoside Phosphorylase Deficiency.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2004, v. 23, n. 8/9, p. 1411, doi. 10.1081/NCN-200027647

By:

Grunebaum, Eyal;
Zhang, Junyang;
Roifman, ChaimM.

Publication type:

Article

A rat model of purine nucleoside phosphorylase deficiency.

Published in:

Immunology, 1986, v. 59, n. 1, p. 63

By:

Osborne, W. R. A.;
Barton, R. W.

Publication type:

Article

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy.

Published in:

Prenatal Diagnosis, 1989, v. 9, n. 6, p. 401, doi. 10.1002/pd.1970090605

By:

Kleijer, W. J.;
Hussaarts-Odijk, L. M.;
Los, F. J.;
Pijpers, L.;
de Bree, P. K.;
Duran, M.

Publication type:

Article

339. Long-Term Protein Transduction Domain Mediated Intra-Cellular Delivery of Purine Nucleoside Phosphorylase (PNP) Corrects PNP Deficiency in Mice

Published in:

2005

By:

Toro, Ana;
Grunebaum, Eyal

Publication type:

Abstract

Purine Nucleoside Phosphorylase (PNP) Deficiency: A Case Report.

Published in:

Egyptian Journal of Hospital Medicine, 2020, v. 81, n. 5, p. 1967

By:

Albar, Rawia;
Alesa, Alaa;
Saqa, Dina;
Abdulaziz, Jamanah;
Batouk, Mohammad;
Alesa, Abdullah

Publication type:

Article

An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome.

Published in:

Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0328-3

By:

Arduini, Alessia;
Marasco, Emiliano;
Marucci, Giulia;
Pardeo, Manuela;
Insalaco, Antonella;
Caiello, Ivan;
Moneta, Gian Marco;
Prencipe, Giusi;
De Benedetti, Fabrizio;
Bracaglia, Claudia

Publication type:

Article

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 833, doi. 10.1007/s10875-020-00800-y

By:

Al-Saud, Bandar;
Al Alawi, Zainab;
Hussain, Faisal Bin;
Hershfield, Michael;
Alkuraya, Fowzan S.;
Al-Mayouf, Sulaiman M.

Publication type:

Article

Lentivirus gene therapy for purine nucleoside phosphorylase deficiency.

Published in:

Journal of Gene Medicine, 2008, v. 10, n. 12, p. 1282, doi. 10.1002/jgm.1261

By:

Liao, Pu;
Toro, Ana;
Min, Weixian;
Lee, Shaun;
Roifman, Chaim M.;
Grunebaum, Eyal

Publication type:

Article

Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10935-0

By:

Tsui, Michael;
Biro, Jeremy;
Chan, Jonathan;
Min, Weixian;
Dobbs, Kerry;
Notarangelo, Luigi D.;
Grunebaum, Eyal

Publication type:

Article

Incorporation of purine nucleosides in cultured fibroblasts from a patient with purine nucleoside phosphorylase deficiency and associated T-cell immunodeficiency.

Published in:

Journal of Cellular Physiology, 1977, v. 92, n. 1, p. 109, doi. 10.1002/jcp.1040920113

By:

Burke, Wylie G.;
Chen, Shi-Han;
Scott, C. Ronald;
Ammann, Arthur J.

Publication type:

Article

An erythrocyte Pr auto-antibody with sialoglycoprotein specificity in a patient with purine nucleoside phosphorylase deficiency.

Published in:

Transfusion, 1985, v. 25, n. 2, p. 131, doi. 10.1046/j.1537-2995.1985.25285169204.x

By:

McGinniss, Mary H.;
Wasniowska, Kazimiera;
Zopf, David A.;
Straus, Stephen E.;
Reichert, Cheryl M.

Publication type:

Article

TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.

Published in:

Journal of Clinical Investigation, 2006, v. 116, n. 10, p. 2717, doi. 10.1172/JCI25052

By:

Toro, Ana;
Grunebaum, Eyal

Publication type:

Article

TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.

Published in:

Journal of Clinical Investigation, 2006, v. 116, n. 10, p. 2717, doi. 10.1172/JCI25052

By:

Toro, Ana;
Grunebaum, Eyal

Publication type:

Article

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency.

Published in:

Immunologic Research, 2013, v. 56, n. 1, p. 150, doi. 10.1007/s12026-012-8380-9

By:

Somech, Raz;
Lev, Atar;
Grisaru-Soen, Galia;
Shiran, Shelly;
Simon, Amos;
Grunebaum, Eyal

Publication type:

Article

COMMON VARIABLE IMMUNODEFICIENCY AND PURINE NUCLEOTIDASE AND NUCLEOSIDE PHOSPHORYLASE DEFICIENCY: A Case Report.

Published in:

APMIS, 1980, v. 88C, n. 1-6, p. 299, doi. 10.1111/j.1699-0463.1980.tb00110.x

By:

ØSTERGAARD, POUL AABEL;
DEDING, AAGE;
ERIKSEN, JAN;
MEJER, JOHANNES

Publication type:

Article

High Risk Screening of Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency in Japan.

Published in:

Pediatrics International, 1987, v. 29, n. 1, p. 152, doi. 10.1111/j.1442-200X.1987.tb00022.x

By:

Kishi, Takamasa;
Sakura, Nobuo;
Ito, Kazuhiko;
Usui, Tomofusa

Publication type:

Article

Screening for Adenosine Deaminase or Purine Nucleoside Phosphorylase Deficiency and a Report of Two Patients with Adenosine Deaminase Deficiency.

Published in:

Pediatrics International, 1981, v. 23, n. 1, p. 66, doi. 10.1111/j.1442-200X.1981.tb01248.x

By:

Sakura, Nobuo;
Usui, Tomofusa;
Ito, Kazuhiko

Publication type:

Article

Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development.

Published in:

Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.01257

By:

Grunebaum, Eyal;
Campbell, Nicholas;
Leon-Ponte, Matilde;
Xu, Xiaobai;
Chapdelaine, Hugo

Publication type:

Article

NMR and Computational Study of Purine Nucleoside Phosphorylase Deficiency Markers.

Published in:

International Review on Modelling & Simulations, 2010, v. 3, n. 5, p. 1153

By:

Krawczyk, Hanna

Publication type:

Article

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.

Published in:

2009

By:

Alangari A;
Al-Harbi A;
Al-Ghonaium A;
Santisteban I;
Hershfield M;
Alangari, Abdullah;
Al-Harbi, Abdullah;
Al-Ghonaium, Abdulaziz;
Santisteban, Ines;
Hershfield, Michael

Publication type:

journal article

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.

Published in:

Annals of Saudi Medicine, 2009, v. 29, n. 4, p. 309

By:

Alangari, Abdullah;
Al-Harbi, Abdullah;
Al-Ghonaium, Abdulaziz;
Santisteban, Ines;
Hershfield, Michael

Publication type:

Article

Purine Nucleoside Phosphorylase (PNP) Deficiency Leading to Accumulation of Lymphocytes in S-Phase.

Published in:

Pediatric Hematology & Oncology, 1986, v. 3, n. 4, p. 353, doi. 10.3109/08880018609031238

By:

Rijkers, Ger T.;
Zegers, Ben J. M.;
Spaapen, Leo J. M.;
Rutgers, Derk H.;
Roord, John J.;
Kuis, Wietse;
Stoop, Jan W.

Publication type:

Article

Mutations in purine nucleoside phosphorylase deficiency.

Published in:

Human Mutation, 1997, v. 9, n. 2, p. 118, doi. 10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5

By:

Markert, M. Louise;
Finkel, Bruce D.;
McLaughlin, Tanya M.;
Watson, TJ;
Collard, Harold R.;
McMahon, Connette P.;
Andrews, Lucy G.;
Barrett, Michael J.;
Ward, Frances E.

Publication type:

Article

Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant.

Published in:

Annals of Indian Academy of Neurology, 2019, v. 22, n. 2, p. 231, doi. 10.4103/aian.AIAN_430_17

By:

Shah, Nikit;
Lingappa, Lokesh;
Konanki, Ramesh;
Rani, Sirisha;
Vedam, Ramprasad;
Murugan, Sakthivel

Publication type:

Article

A novel PNP variant causes lymphopenia, hypouricemia and neurological deficit.

Published in:

Paediatrica Indonesiana, 2025, v. 65, n. 2, p. 171, doi. 10.14238/pi65.2.2025.171-8

By:

Abd Hamid, Intan Juliana;
Bee Chin Chen;
Huey Yin Leong;
Yusnita Yakob;
Abd Azize, Nor Azimah;
Mohd Khalid, Mohd Khairul Nizam;
Gaik Siew Ch'ng;
Wee Teik Keng;
Lock Hock Ngu

Publication type:

Article

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00023

By:

Aluri, Jahnavi;
Desai, Mukesh;
Gupta, Maya;
Dalvi, Aparna;
Terance, Antony;
Rosenzweig, Sergio D.;
Stoddard, Jennifer L.;
Niemela, Julie E.;
Tamankar, Vasundhara;
Mhatre, Snehal;
Bargir, Umair;
Kulkarni, Manasi;
Shah, Nitin;
Aggarwal, Amita;
Lashkari, Harsha Prasada;
Krishna, Vidya;
Govindaraj, Geeta;
Kalra, Manas;
Madkaikar, Manisha

Publication type:

Article

Evidence that X-linked severe combined immunodeficiency is not a differentiation defect of T lymphocytes.

Published in:

Clinical & Experimental Immunology, 1991, v. 83, n. 1, p. 4

By:

Goodship, J.;
Malcolm, S.;
Levinsky, R. J.

Publication type:

Article

B cells as well as T cells form deoxynucleotides from either deoxyadenosine or deoxyguanosine.

Published in:

Clinical & Experimental Immunology, 1984, v. 56, n. 1, p. 39

By:

Goday, Adela;
Simmonds, H. Anne;
Morris, G. S.;
Fairbanks, Lynette D.

Publication type:

Article