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Quoted phrase not found in phrase index: "Inosine phosphorylase deficiency, immune defect due to"
Page 1
Neurological involvement in patients with primary immunodeficiency.
Kose H, Karali Z, Bodur M, Cekic S, Kilic SS. Kose H, et al. Allergol Immunopathol (Madr). 2024 Jan 1;52(1):85-92. doi: 10.15586/aei.v52i1.961. eCollection 2024. Allergol Immunopathol (Madr). 2024. PMID: 38186198
Neurologic symptoms are one of the major components of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT), Nijmegen breakage syndrome (NBS), and Purine Nucleoside Phosphorylase (PNP) deficiency, which are considered as the primary invo …
Neurologic symptoms are one of the major components of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT), Nijmegen breakag …
Primary immunodeficiency diseases associated with neurologic manifestations.
Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N. Dehkordy SF, et al. J Clin Immunol. 2012 Feb;32(1):1-24. doi: 10.1007/s10875-011-9593-8. Epub 2011 Oct 26. J Clin Immunol. 2012. PMID: 22038677 Review.
These manifestations are considered core features of some immunodeficiency syndromes, such as ataxia-telangiectasia and purine nucleoside phosphorylase deficiency, or occur less prominently in some others. Diverse pathological mechanisms including d …
These manifestations are considered core features of some immunodeficiency syndromes, such as ataxia-telangiectasia and purine nuc …
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS. Bardou MLD, et al. J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. doi: 10.1016/j.jped.2020.10.015. Epub 2020 Dec 19. J Pediatr (Rio J). 2021. PMID: 33347837 Free PMC article. Review.
OBJECTIVES: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. DATA SOURCE: The data search was centered on the PubMed platform on review studies, meta-analyses, …
OBJECTIVES: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classificat …
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM. Grunebaum E, et al. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. Curr Opin Allergy Clin Immunol. 2013. PMID: 24113229 Review.
PURPOSE OF THE REVIEW: To review the recent advances in the understanding and management of the immune and nonimmune effects of inherited adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies. RECENT FINDINGS: Abnormal …
PURPOSE OF THE REVIEW: To review the recent advances in the understanding and management of the immune and nonimmune effects of inher …
Immunodeficiencies associated with errors in purine metabolism.
Edwards NL. Edwards NL. Med Clin North Am. 1985 May;69(3):505-18. doi: 10.1016/s0025-7125(16)31029-x. Med Clin North Am. 1985. PMID: 3925260 Review.
The genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase lead to blocks in the purine pathway. ...A better understanding of the mechanisms of lymphocytotoxicity in these two purine enzyme defects may lead to better mod …
The genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase lead to blocks in the purine …
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Karaaslan BG, Turan I, Aydemir S, Meric ZA, Atay D, Akcay A, Sari AA, Hershfield M, Cipe F, Aksoy BA, Ersoy GZ, Bozkurt C, Demirkol YK, Ozturk G, Aydogmus C, Kiykim A, Cokugras H. Karaaslan BG, et al. J Clin Immunol. 2023 Nov;43(8):2062-2075. doi: 10.1007/s10875-023-01585-6. Epub 2023 Sep 20. J Clin Immunol. 2023. PMID: 37726596
BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodeficiency. ...Neurologic findings occur in approximately two-thirds of patients. The mechanism of neurologic abnormalities is unclear. Hem …
BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive combined immunodefici …
Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency.
Hirschhorn R. Hirschhorn R. Pediatr Res. 1993 Jan;33(1 Suppl):S35-41. doi: 10.1203/00006450-199305001-00194. Pediatr Res. 1993. PMID: 8433873 Review.
Approximately 20 years ago, Giblett and coworkers serendipitously discovered that in some patients with the syndrome of severe combined immunodeficiency, the disease is due to an inherited deficiency of the enzyme adenosine deaminase (ADA). This then led to the discovery t …
Approximately 20 years ago, Giblett and coworkers serendipitously discovered that in some patients with the syndrome of severe combined immu …
The acquired immunodeficiency syndrome (AIDS).
Rosen FS. Rosen FS. J Clin Invest. 1985 Jan;75(1):1-3. doi: 10.1172/JCI111659. J Clin Invest. 1985. PMID: 3155526 Free PMC article.
Among the primary immunodeficiencies, AIDS most closely resembles the defect observed in purine nucleoside phosphorylase deficiency, an inherited autosomal recessive phenomenon. ...Moreover, antigen overload in experimental animals and man has b …
Among the primary immunodeficiencies, AIDS most closely resembles the defect observed in purine nucleoside phosphory …
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M. Aluri J, et al. Front Immunol. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023. eCollection 2019. Front Immunol. 2019. PMID: 30778343 Free PMC article.
The spectrum of genetic defects in our cohort revealed a wide genetic heterogeneity with the major genetic cause being RAG1/2 gene defect (n = 12) followed by IL2RG (n = 9) and JAK3 defects (n = 9). Rare forms of SCID like Purine nucleoside p …
The spectrum of genetic defects in our cohort revealed a wide genetic heterogeneity with the major genetic cause being RAG1/2 gene …
Cloning, overexpression, and purification of functional human purine nucleoside phosphorylase.
Silva RG, Carvalho LP, Oliveira JS, Pinto CA, Mendes MA, Palma MS, Basso LA, Santos DS. Silva RG, et al. Protein Expr Purif. 2003 Jan;27(1):158-64. doi: 10.1016/s1046-5928(02)00602-2. Protein Expr Purif. 2003. PMID: 12509998
Purine nucleoside phosphorylase (PNP) catalyzes the phosphorolysis of the N-ribosidic bonds of purine nucleosides and deoxynucleosides. A genetic deficiency due to mutations in the gene encoding for human PNP causes T-cell deficiency as the majo …
Purine nucleoside phosphorylase (PNP) catalyzes the phosphorolysis of the N-ribosidic bonds of purine nucleosides and d …
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