PNP deficiency

同

purine nucleoside phosphorylase

WordNet

1. the 16th letter of the Roman alphabet (同)p

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. parking
3. phosphorusの化学記号

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• 1. プリンヌクレオシドホスホリラーゼ欠損症 purine nucleoside phosphorylase deficiency
• 2. 低尿酸血症：原因および臨床的意義 hypouricemia causes and clinical significance
• 3. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 4. アデノシンデアミナーゼ欠損症：病因、臨床症状、および診断 adenosine deaminase deficiency pathogenesis clinical manifestations and diagnosis
• 5. 複合免疫不全 combined immunodeficiencies

English Journal

• Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

• la Marca G1, Canessa C2, Giocaliere E1, Romano F2, Malvagia S1, Funghini S1, Moriondo M2, Valleriani C2, Lippi F2, Ombrone D1, Della Bona ML1, Speckmann C3, Borte S4, Brodszki N5, Gennery AR6, Weinacht K7, Celmeli F8, Pagel J9, de Martino M2, Guerrini R10, Wittkowski H11, Santisteban I12, Bali P12, Ikinciogullari A13, Hershfield M12, Notarangelo LD14, Resti M2, Azzari C15.
• The Journal of allergy and clinical immunology.J Allergy Clin Immunol.2014 Jul;134(1):155-9. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24.
• BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocyte
• PMID 24767876

• Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.

• Castro M1, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, Vega AI, Ruíz Desviat L, Pérez B, Pérez-Cerdá C, Merinero B, Ugarte M.
• Nucleosides, nucleotides & nucleic acids.Nucleosides Nucleotides Nucleic Acids.2014;33(4-6):233-40. doi: 10.1080/15257770.2013.854381.
• Purine and pyrimidine disorders represent a heterogeneous group with variable clinical symptoms and low prevalence rate. In the last thirteen years, we have studied urine/plasma specimens from about 1600 patients and we have identified 35 patients: eight patients with adenylosuccinate lyase deficien
• PMID 24940674

• Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.

• Grunebaum E1, Cohen A, Roifman CM.
• Current opinion in allergy and clinical immunology.Curr Opin Allergy Clin Immunol.2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006.
• 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 thymocyte development and peripheral T-cell activation
• PMID 24113229

Japanese Journal

• Purine metabolic enzymes in lymphocytes. III. Effects of immunosuppressants on adenosine deaminase and purine nucleoside phosphorylase activities

• Kurashige Satonori,Akuzawa Yuki,Yoshida Toshiharu,Kodama Kazue
• 群馬大学医療技術短期大学部紀要 3, 93-103, 1983-03-30
• … Mice were treated with a single injection of 6-mercaptopurine riboside (6MP-R), predonine or cyclophosphamide (CY), and the effects of these immunosuppressants on blastogenic responses to phytohemagglutinin P (PHA-P) or bacterial lipopoly saccharide (LPS) and on adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) activities were studied with spleen lymphocytes. …
• NAID 120000913675

• Purine metabolic enzymes in lymphocytes. III. Effects of immunosuppressants on adenosine deaminase and purine nucleoside phosphorylase activities.

• 倉茂 達徳,阿久沢 由紀,吉田 寿春,児玉 一恵
• 紀要 3, 93-103, 1983-03-30
• … Mice were treated with a single injection of 6-mercaptopurine riboside (6MP-R), predonine or cyclophosphamide (CY), and the effects of these immunosuppressants on blastogenic responses to phytohemagglutinin P (PHA-P) or bacterial lipopoly saccharide (LPS) and on adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) activities were studied with spleen lymphocytes. …
• NAID 110005000288

• Purine nucleoside phosphorylase(PNP)細胞化学的染色法の検討(第二報) ヒト末梢リンパsubpopulation での陽性率と enzymemarker としての可能性

• 前田 恵三,伊藤 和彦
• 尿酸 3(2), 95-102, 1979
• … Purine nucleoside phosphorylase(PNP), the enzyme in the purine salvage pathway, is necessary for the normal human T cell function of the immunological system, since PNP deficiency is associated with severely defective T cell immunity but with normal B cell immunity. … Therefore, PNP is speculated to be useful as an enzyme marker for the differentiation and maturation of T cells. …
• NAID 130003354927

Related Links

• PNP deficiency - RightDiagnosis.com - Right Diagnosis

PNP deficiency symptoms, causes, diagnosis, and treatment information for PNP deficiency (Purine nucleoside phosphorylase deficiency) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...

• PNP SCID - My Place

... severe combined immunodeficiency caused by purine nucleoside phosphorylase (PNP) deficiency . SCID (PNP) deficiency is a very rare genetic disease, initially described in 1975; since then 32 other patients with the disorder ...

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★リンクテーブル★

リンク元	「purine nucleotide phosphorylase deficiency」
関連記事	「deficiency」「P」「PNP」「PN」

「purine nucleotide phosphorylase deficiency」

　　[★]

同

PNP deficiency

同

PNP deficiency

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「P」

　　[★]

• プロリン proline
• P波 P wave
• リン phosphorus

　 　 　

「PNP」

　　[★]

同

purine nucleoside phosphorylase

同

purine nucleoside phosphorylase

「PN」

　　[★] 結節性多発動脈炎 polyarteritis nodosa