原発性免疫不全症
原発性免疫不全症は, 多くは遺伝素因による免疫機構の先天的な欠陥が原因である. 一般には, リンパ球による特異的免疫機構の欠陥と補体や食細胞による非特異的免疫機構の欠陥とに分けられる. 原発性免疫不全症の研究は, ヒトの免疫機構や感染防御機構の解明に大きな役割を果たしてきている. 近年, 分子生物学的研究手法の導入により, 原発性免疫不全症の分子, 遺伝子レベルでの欠陥機序が次々に明らかになってきている1. このため, 原発性免疫不全症の分類が再整理されている. 今回は, 原発性免疫不全症の分類と原発性特異的免疫不全症の主な疾患, そして日本における原発性免疫不全症の登録について述べる. 1....
Saved in:
| Published in | Journal of Nippon Medical School Vol. 67; no. 2; pp. 83 - 91 |
|---|---|
| Main Author | |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本医科大学医学会
2000
|
| Online Access | Get full text |
| ISSN | 1345-4676 1347-3409 |
| DOI | 10.1272/jnms.67.83 |
Cover
| Abstract | 原発性免疫不全症は, 多くは遺伝素因による免疫機構の先天的な欠陥が原因である. 一般には, リンパ球による特異的免疫機構の欠陥と補体や食細胞による非特異的免疫機構の欠陥とに分けられる. 原発性免疫不全症の研究は, ヒトの免疫機構や感染防御機構の解明に大きな役割を果たしてきている. 近年, 分子生物学的研究手法の導入により, 原発性免疫不全症の分子, 遺伝子レベルでの欠陥機序が次々に明らかになってきている1. このため, 原発性免疫不全症の分類が再整理されている. 今回は, 原発性免疫不全症の分類と原発性特異的免疫不全症の主な疾患, そして日本における原発性免疫不全症の登録について述べる. 1. 原発性免疫不全症の分類 原発性免疫不全症の分類は, WHOから新しい知見に基づき3～5年ごとに改訂され発表されてきている. ここでは1997年に発表されたWHOレポート2をもとにその分類を示す. 原発性免疫不全症は, 1)原発性特異的免疫不全症[i)複合免疫不全症(表1), ii)抗体産生不全(抗体欠乏)を主徴とする免疫不全症(表2), iii)その他の明確に定義された免疫不全症(表3), iv)その他の原発性免疫不全症(表4)], 2)補体欠損症(表5), 3)先天性の食細胞数の減少および/または機能不全(表6), 4)免疫不全を伴う先天性または遺伝性疾患(表7)に分類されている. |
|---|---|
| AbstractList | 原発性免疫不全症は, 多くは遺伝素因による免疫機構の先天的な欠陥が原因である. 一般には, リンパ球による特異的免疫機構の欠陥と補体や食細胞による非特異的免疫機構の欠陥とに分けられる. 原発性免疫不全症の研究は, ヒトの免疫機構や感染防御機構の解明に大きな役割を果たしてきている. 近年, 分子生物学的研究手法の導入により, 原発性免疫不全症の分子, 遺伝子レベルでの欠陥機序が次々に明らかになってきている1. このため, 原発性免疫不全症の分類が再整理されている. 今回は, 原発性免疫不全症の分類と原発性特異的免疫不全症の主な疾患, そして日本における原発性免疫不全症の登録について述べる. 1. 原発性免疫不全症の分類 原発性免疫不全症の分類は, WHOから新しい知見に基づき3～5年ごとに改訂され発表されてきている. ここでは1997年に発表されたWHOレポート2をもとにその分類を示す. 原発性免疫不全症は, 1)原発性特異的免疫不全症[i)複合免疫不全症(表1), ii)抗体産生不全(抗体欠乏)を主徴とする免疫不全症(表2), iii)その他の明確に定義された免疫不全症(表3), iv)その他の原発性免疫不全症(表4)], 2)補体欠損症(表5), 3)先天性の食細胞数の減少および/または機能不全(表6), 4)免疫不全を伴う先天性または遺伝性疾患(表7)に分類されている. |
| Author | 福永, 慶隆 |
| Author_xml | – sequence: 1 fullname: 福永, 慶隆 organization: 日本医科大学小児科学教室 |
| BookMark | eNo1j7FKA0EQhheJYIxprHyJi7M7m51sJRKMCgEbrZfdy57ecbmTu4jY2QSrWCpWlgq-gPg8xryGq6fF_P8ww3w_s8laRVl4xrY59LggsZsV07qnqDfANdbmKClCCbr12_cjqUhtsG5dpw4AOUcOqs12lvfPq6ePr9uX5Xyxenj7fF8s56-rx7sttp7YvPbdP--ws9HB6fAoGp8cHg_3x1EWABBNJHmpEJA0SkdEfasFEiVaa-XDwFuyirtEkYZETCyQk1a6ZBCT4w6xw0YNd-onaWzzssjTwpusvKqKkGvia56V4TEjAMAAKAIRTIYaYBDNQ5zm_QDaa0BZPbPn3lxW6dRWN8ZWszTOA_EHosiIRsLx_ya-sJXJLH4DGGRmvg |
| ContentType | Journal Article |
| Copyright | 2000 日本医科大学医学会 |
| Copyright_xml | – notice: 2000 日本医科大学医学会 |
| CorporateAuthor | 日本医科大学小児科学教室 |
| CorporateAuthor_xml | – name: 日本医科大学小児科学教室 |
| DOI | 10.1272/jnms.67.83 |
| DatabaseTitleList | |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1347-3409 |
| EndPage | 91 |
| ExternalDocumentID | cw1jonms_2000_006702_004_0083_0091237915 article_jnms_67_2_67_2_83_article_char_ja |
| GroupedDBID | .55 29L 2WC 53G 5GY ABDBF ACUHS AEGXH AENEX ALMA_UNASSIGNED_HOLDINGS CS3 DIK DU5 E3Z EBD EBS EJD EMOBN ESX F5P FRP GX1 JMI JSF JSH KQ8 MK0 MOJWN OVT RJT RNS RZJ SV3 TKC TR2 TUS W2D X7M XSB ~8M |
| ID | FETCH-LOGICAL-j3100-d47e463037934b7775a92377f9996eb77ea7a61bf6790f2da07b4a4bf8c7b1b33 |
| ISSN | 1345-4676 |
| IngestDate | Thu Jul 10 16:11:47 EDT 2025 Wed Sep 03 06:30:12 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 2 |
| Language | Japanese |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-j3100-d47e463037934b7775a92377f9996eb77ea7a61bf6790f2da07b4a4bf8c7b1b33 |
| OpenAccessLink | https://www.jstage.jst.go.jp/article/jnms/67/2/67_2_83/_article/-char/ja |
| PageCount | 9 |
| ParticipantIDs | medicalonline_journals_cw1jonms_2000_006702_004_0083_0091237915 jstage_primary_article_jnms_67_2_67_2_83_article_char_ja |
| PublicationCentury | 2000 |
| PublicationDate | 20000000 |
| PublicationDateYYYYMMDD | 2000-01-01 |
| PublicationDate_xml | – year: 2000 text: 20000000 |
| PublicationDecade | 2000 |
| PublicationTitle | Journal of Nippon Medical School |
| PublicationTitleAlternate | 日医大誌 |
| PublicationYear | 2000 |
| Publisher | 日本医科大学医学会 |
| Publisher_xml | – name: 日本医科大学医学会 |
| References | 28) Donner M, Schwartz M, Carlsson KU, Holmberg L: Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 1988; 72: 1849-1853. 6) Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, Wesley McBride OW, Leonard WJ: Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993; 73: 147-157. 24) Spickett GP, Farrant J, North ME, Zhang JG, Morgan L, Webster ADB: Common variable immunodeficiency: How many diseses?. Immunol Today 1997; 18: 325-328. 17) Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, Fanslow WC, Belmont J, Spriggs MK: CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993; 259: 990-993. 1) Smith CIE, Vihinen M: Immunodeficiency mutation databases: A new reseach tool. Immnol Today 1996; 17: 495-521. 9) Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone TS, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, Leonard WJ: Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development. Science 1995; 270: 797-802. 34) Wilson DI, Burn J, Scambler P, Goodship J: DiGeorge syndrome: Part of CATCH 22. J Med Genet 1993; 30: 852-856. 10) Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Segar RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR: RAG mutations in human B cell- negative SCID. Science 1996; 274: 97-99. 11) Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E: Partial V (D) J recombination activity leads to Omenn syndrome. Cell 1998; 93: 885-896. 20) Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niisd Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T: Identification of Bruton's tyrosine kinase (Btk) gene mutations a characterization of the derived proteins in 35 X-linked agammmaglobulinemia families: A nationwide study of Btk deficiency in Japan. Blood 1996; 88: 561-573. 2) WHO scientific group: Primary immunodeficiency diseaases. Clin Exp Immunol 1997; 109: s1-s28. 12) Hirschhorn R: Adenisine deaminase deficiency: Molecular basis and recent developments. Clin Immuno Immunopathol 1995; 76: S219-S227. 29) Savitsky K, Sfez S, Tagle DA, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G: The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet 1995; 4: 2025-2032. 15) Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EAM, Tabone MD, Plantaz D, Etzioni A, Momafo V, Abinun M, Hammarstrom L, Abrabamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD: Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997; 131: 47-54. 16) Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonomiya S, Bajorath J, Grosmaire LS, Stenkamp R, Neubauer M, Robert RL, Noelle RJ, Ledbetter JA, Francke U, Ochs HD: The CD40 ligand, gp39, Is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 1993; 72: 291-300. 31) Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268: 1749-1753. 22) Quartier P, Debre M, De Blic J, De Sauverzac R, Sayegh N, Sabada N, Hadddad E, Blanche S, Casanova J-L, Smith CIE, Le Deist F, de Saint Basile G, Fischer A: Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammmaglobulinemia: A retrospective survey of 31 patients. J Pediatr 1999; 134: 589-596. 23) Futatani T, Miyawaki T, Tsukada S, Hashimoto S, Kunikata T, Arai S, Kurimoto M, Niida Y, Matsuoka H, Sakiyama Y, Iwata T, Tsuchiya S, Tatsuzawa O, Yoshizaki K, Kishimoto T: Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammmaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 1998; 91: 595-602. 3) Stephan JL, Vleeekova V, Deist FL, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A: Severe combined immunodeficiendy: A retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 1993; 123: 564-572. 14) Blaese RM, Culver KW, Miller A, Carter CS, Fleisher T, Clerici M, Shearer G, Chang L, Chiang Y, Tolstoshev P, Greenblatt JJ, Rosenberg SA, Klein H, Berger M, Mullen CA, Ramsay WJ, Muul L, Morgan RA, Anderson WF: T Lymphocyte-directed gene therapy for ADA-SCID: Initial trial results after 4 years. Science 1995; 270: 475-480. 13) Hershfield MS, Chaffee S, Sorense RU: Enzyme replacement therapy with polyethlene glycol- adenosine deaminase in adenosine deaminase deficiency: Overview and case reports of three patients, including two now receiving gene therapy. Pediatr Res 1993; 33: s42-s48. 18) Vetrie D, Vorechovsky I, Sideras P, Holland J, Daies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley DR: The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993; 361: 226-233. 25) Espanol T, Catala M, Hernandez M, Caragol I, Bertran JM: Development of a common variable immunodeficiency in IgA-deficient patients. Clin Immunol Immunopathol 1996; 80: 333-335. 32) Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML: A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet 1996; 5: 789-800. 4) Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, Fasth A, Cavazzana-Calvo M, Porta F, Cant A, Espanol T, Muller S, Veys P, Vossen J, Haddad E, Fischer A: Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell- depleted bone marrow transplantation. J Pediatr 1999; 134: 740-748. 5) Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM: Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 1997; 130: 378-387. 19) Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME, Witte ON: Deficient expression of a B cell cytoplastic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993; 72: 279-290. 8) Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea J, Vezzoni P, Notarangelo LD: Mutations of Jak-3 gene in patients with autosomal severe combined immune difeciency (SCID) . Nature 1995; 377: 65-68. 21) Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Magnus Backesjo C, Vihinen M, Hubbard SR, Belohradsky BH, Smith E, Meindl A: Mutation screening of the BTK gene in 56 families with X-linked agammmaglobulinemia (XLA) : 47 unique mutations without correlation to clinical course. Pediatrics 1998; 101: 276-284. 30) Fukao T, Song X-O, Yoshida T, Tashita H, Kaneko H, Teramoto T, Inoue R, Katayama K, Mayumi M, Hiratani M, Taniguchi N, Arai J, Wakiguchi H, Bar-Shira A, Shiloh Y, Kondo N: Ataxia-Telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+22→ A, and 78883del5, the latter two being relatively common mutations. Hum Mut 1998; 12: 338-343. 26) Ochs HD: The Wiskott-Aldrich syndrome. Semi Hematol 1998; 35: 332-345. 27) Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994; 78: 635-644. 7) Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH: Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 1997; 89: 1968-1977. 33) Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML: Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Hum Mol Genet 1997; 6: 267-276. |
| References_xml | – reference: 20) Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niisd Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T: Identification of Bruton's tyrosine kinase (Btk) gene mutations a characterization of the derived proteins in 35 X-linked agammmaglobulinemia families: A nationwide study of Btk deficiency in Japan. Blood 1996; 88: 561-573. – reference: 2) WHO scientific group: Primary immunodeficiency diseaases. Clin Exp Immunol 1997; 109: s1-s28. – reference: 8) Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea J, Vezzoni P, Notarangelo LD: Mutations of Jak-3 gene in patients with autosomal severe combined immune difeciency (SCID) . Nature 1995; 377: 65-68. – reference: 30) Fukao T, Song X-O, Yoshida T, Tashita H, Kaneko H, Teramoto T, Inoue R, Katayama K, Mayumi M, Hiratani M, Taniguchi N, Arai J, Wakiguchi H, Bar-Shira A, Shiloh Y, Kondo N: Ataxia-Telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+22→ A, and 78883del5, the latter two being relatively common mutations. Hum Mut 1998; 12: 338-343. – reference: 31) Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NGJ, Taylor AMR, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y: A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268: 1749-1753. – reference: 12) Hirschhorn R: Adenisine deaminase deficiency: Molecular basis and recent developments. Clin Immuno Immunopathol 1995; 76: S219-S227. – reference: 13) Hershfield MS, Chaffee S, Sorense RU: Enzyme replacement therapy with polyethlene glycol- adenosine deaminase in adenosine deaminase deficiency: Overview and case reports of three patients, including two now receiving gene therapy. Pediatr Res 1993; 33: s42-s48. – reference: 6) Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, Wesley McBride OW, Leonard WJ: Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993; 73: 147-157. – reference: 34) Wilson DI, Burn J, Scambler P, Goodship J: DiGeorge syndrome: Part of CATCH 22. J Med Genet 1993; 30: 852-856. – reference: 19) Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME, Witte ON: Deficient expression of a B cell cytoplastic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993; 72: 279-290. – reference: 7) Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH: Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood 1997; 89: 1968-1977. – reference: 21) Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Magnus Backesjo C, Vihinen M, Hubbard SR, Belohradsky BH, Smith E, Meindl A: Mutation screening of the BTK gene in 56 families with X-linked agammmaglobulinemia (XLA) : 47 unique mutations without correlation to clinical course. Pediatrics 1998; 101: 276-284. – reference: 15) Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EAM, Tabone MD, Plantaz D, Etzioni A, Momafo V, Abinun M, Hammarstrom L, Abrabamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD: Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997; 131: 47-54. – reference: 27) Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994; 78: 635-644. – reference: 22) Quartier P, Debre M, De Blic J, De Sauverzac R, Sayegh N, Sabada N, Hadddad E, Blanche S, Casanova J-L, Smith CIE, Le Deist F, de Saint Basile G, Fischer A: Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammmaglobulinemia: A retrospective survey of 31 patients. J Pediatr 1999; 134: 589-596. – reference: 24) Spickett GP, Farrant J, North ME, Zhang JG, Morgan L, Webster ADB: Common variable immunodeficiency: How many diseses?. Immunol Today 1997; 18: 325-328. – reference: 32) Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML: A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet 1996; 5: 789-800. – reference: 17) Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, Fanslow WC, Belmont J, Spriggs MK: CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993; 259: 990-993. – reference: 33) Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML: Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Hum Mol Genet 1997; 6: 267-276. – reference: 28) Donner M, Schwartz M, Carlsson KU, Holmberg L: Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 1988; 72: 1849-1853. – reference: 4) Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, Fasth A, Cavazzana-Calvo M, Porta F, Cant A, Espanol T, Muller S, Veys P, Vossen J, Haddad E, Fischer A: Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell- depleted bone marrow transplantation. J Pediatr 1999; 134: 740-748. – reference: 5) Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM: Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 1997; 130: 378-387. – reference: 26) Ochs HD: The Wiskott-Aldrich syndrome. Semi Hematol 1998; 35: 332-345. – reference: 1) Smith CIE, Vihinen M: Immunodeficiency mutation databases: A new reseach tool. Immnol Today 1996; 17: 495-521. – reference: 11) Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E: Partial V (D) J recombination activity leads to Omenn syndrome. Cell 1998; 93: 885-896. – reference: 14) Blaese RM, Culver KW, Miller A, Carter CS, Fleisher T, Clerici M, Shearer G, Chang L, Chiang Y, Tolstoshev P, Greenblatt JJ, Rosenberg SA, Klein H, Berger M, Mullen CA, Ramsay WJ, Muul L, Morgan RA, Anderson WF: T Lymphocyte-directed gene therapy for ADA-SCID: Initial trial results after 4 years. Science 1995; 270: 475-480. – reference: 3) Stephan JL, Vleeekova V, Deist FL, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A: Severe combined immunodeficiendy: A retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 1993; 123: 564-572. – reference: 10) Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Segar RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR: RAG mutations in human B cell- negative SCID. Science 1996; 274: 97-99. – reference: 25) Espanol T, Catala M, Hernandez M, Caragol I, Bertran JM: Development of a common variable immunodeficiency in IgA-deficient patients. Clin Immunol Immunopathol 1996; 80: 333-335. – reference: 23) Futatani T, Miyawaki T, Tsukada S, Hashimoto S, Kunikata T, Arai S, Kurimoto M, Niida Y, Matsuoka H, Sakiyama Y, Iwata T, Tsuchiya S, Tatsuzawa O, Yoshizaki K, Kishimoto T: Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammmaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 1998; 91: 595-602. – reference: 18) Vetrie D, Vorechovsky I, Sideras P, Holland J, Daies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley DR: The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993; 361: 226-233. – reference: 16) Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonomiya S, Bajorath J, Grosmaire LS, Stenkamp R, Neubauer M, Robert RL, Noelle RJ, Ledbetter JA, Francke U, Ochs HD: The CD40 ligand, gp39, Is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 1993; 72: 291-300. – reference: 29) Savitsky K, Sfez S, Tagle DA, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G: The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet 1995; 4: 2025-2032. – reference: 9) Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone TS, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, Leonard WJ: Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development. Science 1995; 270: 797-802. |
| SSID | ssib003113106 ssib002484297 ssib000959778 ssib015835743 ssj0033556 |
| Score | 1.5685157 |
| Snippet | 原発性免疫不全症は, 多くは遺伝素因による免疫機構の先天的な欠陥が原因である. 一般には, リンパ球による特異的免疫機構の欠陥と補体や食細胞による非特異的免疫機構の... |
| SourceID | medicalonline jstage |
| SourceType | Publisher |
| StartPage | 83 |
| Title | 原発性免疫不全症 |
| URI | https://www.jstage.jst.go.jp/article/jnms/67/2/67_2_83/_article/-char/ja http://mol.medicalonline.jp/en/journal/download?GoodsID=cw1jonms/2000/006702/004&name=0083-0091j |
| Volume | 67 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| ispartofPNX | Journal of Nippon Medical School, 2000, Vol.67(2), pp.83-91 |
| journalDatabaseRights | – providerCode: PRVAFT databaseName: Open Access Digital Library customDbUrl: eissn: 1347-3409 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0033556 issn: 1345-4676 databaseCode: KQ8 dateStart: 19990101 isFulltext: true titleUrlDefault: http://grweb.coalliance.org/oadl/oadl.html providerName: Colorado Alliance of Research Libraries – providerCode: PRVBFR databaseName: Free Medical Journals - Free Access to All customDbUrl: eissn: 1347-3409 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0033556 issn: 1345-4676 databaseCode: DIK dateStart: 19230101 isFulltext: true titleUrlDefault: http://www.freemedicaljournals.com providerName: Flying Publisher – providerCode: PRVFQY databaseName: Geneva Foundation for Medical Education and Research Open Access Journals customDbUrl: eissn: 1347-3409 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0033556 issn: 1345-4676 databaseCode: GX1 dateStart: 0 isFulltext: true titleUrlDefault: http://www.gfmer.ch/Medical_journals/Free_medical.php providerName: Geneva Foundation for Medical Education and Research |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1La9wwEBZLCqVQSp8kfZFDdfTWD8ljnYrteAmF5JTA3oyfUEN2l2ZDoadeQk_psaGnHlvoHyj9Pd3u3-iMLO86pIc0sGjNyNJInrH0jaUZMfaiLIu8tt3achQUlvBrzwpw2rVqGzIKaA5uTf7Oe_v-7qF4PZbjweC8t2vpZJ4Pi_f_9Cu5jlSRhnIlL9n_kOyqUiTgNcoXU5QwpleSMU8kDxKuRjwBrhSPQp74tHchBJ2Fvx2d5fMw4ongUaApOisMdBZwMxVdRqj7b2az6Xotpw3Y2UmICofIbEQsI5uqRmlp_pJHPk8UVyE3Aai7zwr2SgXoRuQdSn0R8zDWzYp5FOmasWUOUUJhOhPuELv1PSsK9ipGVr3R1RMS9QFM7OuOhqOcsFV_SG5P6DCq5_bG1_bQGzNTt8d8XZoDXKCYss3k6Hjow7ArcSGmtpFYSjelPqRumwRe2uWQz1vaIPC-4QJCGPIiH_dws6KwfX27LcB5vWeXOY7XW752JOJcECuI4CHI025v3fMwcXOx5S_X7UZM1KCFQKEfbh-1km6jp_QA0MFddsfoxXbYNv0eGzTZfXZzz-zNeMA2F5--Lr_8-vPh2-L0bPn5x--fZ4vT78vzjw_Z4Sg5iHctc-6G1dByj1UKqISP2AbHbpEDgMzQDACoyTiukFBlkPlOXvug7NotMxtykYm8DgrIndzzHrGNyXRSbbJt6SuvLFRZFwhVs4DcmrNKFk4ui6xQlbPFgraP6awNrpJeWTRb7NWFp5KaF_M4Ld45zZSKk16n2hPNxT-Rkr2BiUK0BsqRj6_P_Am71cZkoG9xT9nG_O1J9QzR6Tx_rjXlL9DOekQ |
| linkProvider | Geneva Foundation for Medical Education and Research |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=%E5%8E%9F%E7%99%BA%E6%80%A7%E5%85%8D%E7%96%AB%E4%B8%8D%E5%85%A8%E7%97%87&rft.jtitle=Journal+of+Nippon+Medical+School&rft.au=%E7%A6%8F%E6%B0%B8%2C+%E6%85%B6%E9%9A%86&rft.date=2000&rft.pub=%E6%97%A5%E6%9C%AC%E5%8C%BB%E7%A7%91%E5%A4%A7%E5%AD%A6%E5%8C%BB%E5%AD%A6%E4%BC%9A&rft.issn=1345-4676&rft.eissn=1347-3409&rft.volume=67&rft.issue=2&rft.spage=83&rft.epage=91&rft_id=info:doi/10.1272%2Fjnms.67.83&rft.externalDocID=article_jnms_67_2_67_2_83_article_char_ja |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1345-4676&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1345-4676&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1345-4676&client=summon |