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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 …
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 …
Therapy in adenosine deaminase and purine nucleoside phosphorylase deficient patients.
Zegers BJ, Stoop JW. Zegers BJ, et al. Clin Biochem. 1983 Feb;16(1):43-7. doi: 10.1016/s0009-9120(83)94381-3. Clin Biochem. 1983. PMID: 6407780 Review.
The discovery of the causal association of adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiency with some forms of primary immunodeficiency disease had led to new approaches to therapy, such as enzyme replacement. ...The latte …
The discovery of the causal association of adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) defic …
NK cell function in severe combined immunodeficiency (SCID): evidence of a common T and NK cell defect in some but not all SCID patients.
Peter HH, Friedrich W, Dopfer R, Müller W, Kortmann C, Pichler WJ, Heinz F, Rieger CH. Peter HH, et al. J Immunol. 1983 Nov;131(5):2332-9. J Immunol. 1983. PMID: 6415162
The present group of eight SCID infants was homogeneous with respect to normal levels of the purine metabolism enzymes adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP). They all had low serum Ig levels and were defective for specific …
The present group of eight SCID infants was homogeneous with respect to normal levels of the purine metabolism enzymes adenosine deaminase ( …
The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency.
Osborne WR, Scott CR. Osborne WR, et al. Biochem J. 1983 Sep 15;214(3):711-8. doi: 10.1042/bj2140711. Biochem J. 1983. PMID: 6312962 Free PMC article.
Purine nucleoside phosphorylase (NP; EC 2.4.2.1) deficiency is associated with defective T-cell and normal B-cell immunity. ...These data suggest a central role for deoxyguanosine kinase activity in the T-cell selectivity of the immune …
Purine nucleoside phosphorylase (NP; EC 2.4.2.1) deficiency is associated with defective T-cell and norma …
Decreased adenosine deaminase (ADA) and 5'nucleotidase (5NT) activity in peripheral blood T cells in Hodgkin disease.
Murray JL, Perez-Soler R, Bywaters D, Hersh EM. Murray JL, et al. Am J Hematol. 1986 Jan;21(1):57-66. doi: 10.1002/ajh.2830210108. Am J Hematol. 1986. PMID: 3010705
The purine metabolic enzymes adenosine deaminase (ADA), purine nucleoside phosphorylase (PNP), and 5'nucleotidase (5NT) play an important role in normal lymphocyte differentiation. ...ADA, PNP, and 5NT activity was measured in peripheral blood T cells from 24 …
The purine metabolic enzymes adenosine deaminase (ADA), purine nucleoside phosphorylase (PNP), and 5'nucleotidase (5NT) …