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Year Number of Results
1979 1
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1991 1
1992 1
1996 1
1997 1
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2008 1
2009 1
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25 results

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Page 1
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.
Torun B, Bilgin A, Orhan D, Gocmen R, Kılıc SS, Kuskonmaz B, Cetinkaya D, Tezcan I, Cagdas D. Torun B, et al. Eur J Med Genet. 2022 Mar;65(3):104428. doi: 10.1016/j.ejmg.2022.104428. Epub 2022 Jan 19. Eur J Med Genet. 2022. PMID: 35063692
One patient died prior to HSCT due to EBV-associated lymphoma. Over the course of post-HSCT, there was no further aggravation of the patients' neurological symptoms. ...
One patient died prior to HSCT due to EBV-associated lymphoma. Over the course of post-HSCT, there was no further aggravation of the …
Purine nucleoside phosphorylase deficiency.
Markert ML. Markert ML. Immunodefic Rev. 1991;3(1):45-81. Immunodefic Rev. 1991. PMID: 1931007 Review.
Studies of a mutant PNP gene isolated from one patient showed that a point mutation resulting in an amino acid substitution was responsible for PNP deficiency. PNP deficiency has a grave prognosis. No patient has reached the third decade of life. Twenty-nine of the 33 repo …
Studies of a mutant PNP gene isolated from one patient showed that a point mutation resulting in an amino acid substitution was responsible …
MTAP Deficiency-Induced Metabolic Reprogramming Creates a Vulnerability to Cotargeting De Novo Purine Synthesis and Glycolysis in Pancreatic Cancer.
Hu Q, Qin Y, Ji S, Shi X, Dai W, Fan G, Li S, Xu W, Liu W, Liu M, Zhang Z, Ye Z, Zhou Z, Yang J, Zhuo Q, Yu X, Li M, Xu X. Hu Q, et al. Cancer Res. 2021 Oct 1;81(19):4964-4980. doi: 10.1158/0008-5472.CAN-20-0414. Epub 2021 Aug 12. Cancer Res. 2021. PMID: 34385182
Our previous study revealed that MTAP deficiency indicates a poor prognosis for patients with pancreatic ductal adenocarcinoma (PDAC). ...
Our previous study revealed that MTAP deficiency indicates a poor prognosis for patients with pancreatic ductal adenocarcinoma (PDAC) …
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.
Alizadeh Z, Badalzadeh M, Heydarlou H, Shakerian L, Mahlooji Rad M, Zandieh F, Fazlollahi MR. Alizadeh Z, et al. Arch Iran Med. 2023 Dec 1;26(12):712-716. doi: 10.34172/aim.2023.105. Arch Iran Med. 2023. PMID: 38431953 Free PMC article.
These variants are considered likely pathogenic based on the American College of Medical Genetics and Genomics (ACMG) guideline. PNP deficiency has a poor prognosis; therefore, early diagnosis would be vital to receive hematopoietic stem cell transplantation (HSCT) as a pr …
These variants are considered likely pathogenic based on the American College of Medical Genetics and Genomics (ACMG) guideline. PNP deficie …
Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients.
Markert ML, Hershfield MS, Schiff RI, Buckley RH. Markert ML, et al. J Clin Immunol. 1987 Sep;7(5):389-99. doi: 10.1007/BF00917017. J Clin Immunol. 1987. PMID: 3116034
The courses of six patients with adenosine deaminase (ADA) and two with purine nucleoside phosphorylase (PNP) deficiencies were evaluated before and after therapy. ...
The courses of six patients with adenosine deaminase (ADA) and two with purine nucleoside phosphorylase (PNP) deficiencies were evalu …
Characterization and Prognostic Significance of Methylthioadenosine Phosphorylase Deficiency in Nasopharyngeal Carcinoma.
He HL, Lee YE, Shiue YL, Lee SW, Chen TJ, Li CF. He HL, et al. Medicine (Baltimore). 2015 Dec;94(49):e2271. doi: 10.1097/MD.0000000000002271. Medicine (Baltimore). 2015. PMID: 26656376 Free PMC article.
In some cases, we also performed methylation-specific PCR and pyrosequencing to assess the status of promoter methylation.MTAP deficiency was significantly associated with advanced tumor stages (P = 0.023) and univariately predictive of adverse outcomes for DSS, DMFS, and …
In some cases, we also performed methylation-specific PCR and pyrosequencing to assess the status of promoter methylation.MTAP deficiency wa …
Purine nucleoside phosphorylase deficiency with fatal course in two sisters.
Aytekin C, Dogu F, Tanir G, Guloglu D, Santisteban I, Hershfield MS, Ikinciogullari A. Aytekin C, et al. Eur J Pediatr. 2010 Mar;169(3):311-4. doi: 10.1007/s00431-009-1029-6. Epub 2009 Aug 6. Eur J Pediatr. 2010. PMID: 19657670
Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal cou …
Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infection …
An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome.
Arduini A, Marasco E, Marucci G, Pardeo M, Insalaco A, Caiello I, Moneta GM, Prencipe G, De Benedetti F, Bracaglia C. Arduini A, et al. Pediatr Rheumatol Online J. 2019 May 22;17(1):25. doi: 10.1186/s12969-019-0328-3. Pediatr Rheumatol Online J. 2019. PMID: 31118063 Free PMC article.
Serum CXCL9 and IL-18 levels were found markedly elevated at disease onset, during the active phase of MAS and decreased progressively during the course. CONCLUSION: The reported case underlines the potential difficulties in discriminating sJIA from other causes of systemi …
Serum CXCL9 and IL-18 levels were found markedly elevated at disease onset, during the active phase of MAS and decreased progressively durin …
Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency.
Rich KC, Arnold WJ, Palella T, Fox IH. Rich KC, et al. Am J Med. 1979 Jul;67(1):172-6. doi: 10.1016/0002-9343(79)90100-1. Am J Med. 1979. PMID: 111549
Immunologic and metabolic abnormalities were studied in a five year old boy with 0.07 per cent of normal erythrocyte purine nucleoside phosphorylase activity. The clinical course is characterized by severe autoimmune hemolytic anemia, a transient neurologic disorder with t …
Immunologic and metabolic abnormalities were studied in a five year old boy with 0.07 per cent of normal erythrocyte purine nucleoside phosp …
25 results