DOI: 10.1038/377065a0. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

10.1038/377065a0

Crossref journal-article

Springer Science and Business Media LLC

Nature (297)

Bibliography

Macchi, P., Villa, A., Giliani, S., Sacco, M. G., Frattini, A., Porta, F., Ugazio, A. G., Johnston, J. A., Candotti, F., OâSheai, J. J., Vezzoni, P., & Notarangelo, L. D. (1995). Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature, 377(6544), 65â68.

Authors 12

Paolo Macchi (first)
Anna Villa (additional)
Silvia Giliani (additional)
Maria G. Sacco (additional)
Annalisa Frattini (additional)
Fulvio Porta (additional)
Alberto G. Ugazio (additional)
James A. Johnston (additional)
Fabio Candotti (additional)
John J. O'Sheai (additional)
Paolo Vezzoni (additional)
Luigi D. Notarangelo (additional)

References 19 Referenced 721

Noguchi, M. et al. Cell 73, 147–157 (1993). (10.1016/0092-8674(93)90167-O) / Cell by M Noguchi (1993)
Schmaistieg, F. C. et al. J. clin. Invest. 95, 1169–1173 (1995). (10.1172/JCI117765) / J. clin. Invest. by FC Schmaistieg (1995)
Kawamura, M. et al. Proc. natn. Acad. Sci. U.S.A. 91, 6374–6378 (1994). (10.1073/pnas.91.14.6374) / Proc. natn. Acad. Sci. U.S.A. by M Kawamura (1994)
Witthuhn, B. A. et al. Nature 370, 153–157 (1994). (10.1038/370153a0) / Nature by BA Witthuhn (1994)
Johnston, J. A. et al. Nature 370, 151–153 (1994). (10.1038/370151a0) / Nature by JA Johnston (1994)
Boussiotis, V. A. et el. Science 266, 1039–1042 (1994). (10.1126/science.7973657) / Science by VA Boussiotis (1994)
Russell, S. M. Science 266, 1042–1045 (1994). (10.1126/science.7973658) / Science by SM Russell (1994)
Myazaki, T. et al. Science 266, 1045–1047 (1994). (10.1126/science.7973659) / Science by T Myazaki (1994)
Musso, T. et al. J. exp. Med. 181, 1425–1431 (1995). (10.1084/jem.181.4.1425) / J. exp. Med. by T Musso (1995)
Darnell, J. E., Kerr, I. M. & Start, G. R. Science 264, 1415–1421 (1994). (10.1126/science.8197455) / Science by JE Darnell (1994)
Ihle, J. N. & Kerr, I. M. Trends Genet. 11, 69–74 (1995). (10.1016/S0168-9525(00)89000-9) / Trends Genet. by JN Ihle (1995)
Cao, X. et al. Immunity 2, 223–238 (1995). (10.1016/1074-7613(95)90047-0) / Immunity by X Cao (1995)
Di Santo, J. P., Muller, W., Guy-Grand, D., Fischer, A. & Rajewsky, K. Proc. natn. Acad. Sci. U.S.A. 93, 377–381 (1995). (10.1073/pnas.92.2.377) / Proc. natn. Acad. Sci. U.S.A. by JP Di Santo (1995)
Gougeon, M.-L. et al. J. Immun. 145, 2873–2877 (1990). (10.4049/jimmunol.145.9.2873) / J. Immun. by M-L Gougeon (1990)
Wengler, G. S., Allen, R. C., Parolini, O., Smith, H. & Conley, M. E. J. Immun. 150, 700–704 (1993). (10.4049/jimmunol.150.2.700) / J. Immun. by GS Wengler (1993)
Puck, J. M., Nussbaum, R. L. & Conley M. E. J. clin. Invest. 79, 1395–1400 (1987). (10.1172/JCI112967) / J. clin. Invest. by JM Puck (1987)
Conley, M. E. et al. Proc. natn. Acad. Sci. U.S.A. 85, 3090–3094 (1988). (10.1073/pnas.85.9.3090) / Proc. natn. Acad. Sci. U.S.A. by ME Conley (1988)
Chomczynski, P. & Sacchi, N. Analyt. Biochem. 162, 156–159 (1987). (10.1016/0003-2697(87)90021-2) / Analyt. Biochem. by P Chomczynski (1987)
Villa, A. et al. Nature Genet. 9, 414–417 (1995). (10.1038/ng0495-414) / Nature Genet. by A Villa (1995)

Dates

Type	When
Created	20 years, 9 months ago (Nov. 23, 2004, 10:09 p.m.)
Deposited	2 years, 3 months ago (May 16, 2023, 11:04 p.m.)
Indexed	3 weeks, 1 day ago (Aug. 5, 2025, 8:49 a.m.)
Issued	29 years, 11 months ago (Sept. 1, 1995)
Published	29 years, 11 months ago (Sept. 1, 1995)
Published Print	29 years, 11 months ago (Sept. 1, 1995)

Funders 0

None

BibTeX

@article{Macchi_1995, title={Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)}, volume={377}, ISSN={1476-4687}, url={http://dx.doi.org/10.1038/377065a0}, DOI={10.1038/377065a0}, number={6544}, journal={Nature}, publisher={Springer Science and Business Media LLC}, author={Macchi, Paolo and Villa, Anna and Giliani, Silvia and Sacco, Maria G. and Frattini, Annalisa and Porta, Fulvio and Ugazio, Alberto G. and Johnston, James A. and Candotti, Fabio and O’Sheai, John J. and Vezzoni, Paolo and Notarangelo, Luigi D.}, year={1995}, month=sep, pages={65–68} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        8,
        5
      ]
    ],
    "date-time": "2025-08-05T12:49:13Z",
    "timestamp": 1754398153446
  },
  "reference-count": 19,
  "publisher": "Springer Science and Business Media LLC",
  "issue": "6544",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            1995,
            9,
            1
          ]
        ],
        "date-time": "1995-09-01T00:00:00Z",
        "timestamp": 809913600000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "http://www.springer.com/tdm"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        1995,
        9
      ]
    ]
  },
  "DOI": "10.1038/377065a0",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2004,
        11,
        24
      ]
    ],
    "date-time": "2004-11-24T03:09:04Z",
    "timestamp": 1101265744000
  },
  "page": "65-68",
  "source": "Crossref",
  "is-referenced-by-count": 721,
  "title": "Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)",
  "prefix": "10.1038",
  "volume": "377",
  "author": [
    {
      "given": "Paolo",
      "family": "Macchi",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Anna",
      "family": "Villa",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Silvia",
      "family": "Giliani",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Maria G.",
      "family": "Sacco",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Annalisa",
      "family": "Frattini",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Fulvio",
      "family": "Porta",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Alberto G.",
      "family": "Ugazio",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "James A.",
      "family": "Johnston",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Fabio",
      "family": "Candotti",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "John J.",
      "family": "O'Sheai",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Paolo",
      "family": "Vezzoni",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Luigi D.",
      "family": "Notarangelo",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "297",
  "reference": [
    {
      "key": "BF377065a0_CR1",
      "doi-asserted-by": "publisher",
      "first-page": "147",
      "DOI": "10.1016/0092-8674(93)90167-O",
      "volume": "73",
      "author": "M Noguchi",
      "year": "1993",
      "unstructured": "Noguchi, M. et al. Cell 73, 147\u2013157 (1993).",
      "journal-title": "Cell"
    },
    {
      "key": "BF377065a0_CR2",
      "doi-asserted-by": "publisher",
      "first-page": "1169",
      "DOI": "10.1172/JCI117765",
      "volume": "95",
      "author": "FC Schmaistieg",
      "year": "1995",
      "unstructured": "Schmaistieg, F. C. et al. J. clin. Invest. 95, 1169\u20131173 (1995).",
      "journal-title": "J. clin. Invest."
    },
    {
      "key": "BF377065a0_CR3",
      "doi-asserted-by": "publisher",
      "first-page": "6374",
      "DOI": "10.1073/pnas.91.14.6374",
      "volume": "91",
      "author": "M Kawamura",
      "year": "1994",
      "unstructured": "Kawamura, M. et al. Proc. natn. Acad. Sci. U.S.A. 91, 6374\u20136378 (1994).",
      "journal-title": "Proc. natn. Acad. Sci. U.S.A."
    },
    {
      "key": "BF377065a0_CR4",
      "doi-asserted-by": "publisher",
      "first-page": "153",
      "DOI": "10.1038/370153a0",
      "volume": "370",
      "author": "BA Witthuhn",
      "year": "1994",
      "unstructured": "Witthuhn, B. A. et al. Nature 370, 153\u2013157 (1994).",
      "journal-title": "Nature"
    },
    {
      "key": "BF377065a0_CR5",
      "doi-asserted-by": "publisher",
      "first-page": "151",
      "DOI": "10.1038/370151a0",
      "volume": "370",
      "author": "JA Johnston",
      "year": "1994",
      "unstructured": "Johnston, J. A. et al. Nature 370, 151\u2013153 (1994).",
      "journal-title": "Nature"
    },
    {
      "key": "BF377065a0_CR6",
      "doi-asserted-by": "publisher",
      "first-page": "1039",
      "DOI": "10.1126/science.7973657",
      "volume": "266",
      "author": "VA Boussiotis",
      "year": "1994",
      "unstructured": "Boussiotis, V. A. et el. Science 266, 1039\u20131042 (1994).",
      "journal-title": "Science"
    },
    {
      "key": "BF377065a0_CR7",
      "doi-asserted-by": "publisher",
      "first-page": "1042",
      "DOI": "10.1126/science.7973658",
      "volume": "266",
      "author": "SM Russell",
      "year": "1994",
      "unstructured": "Russell, S. M. Science 266, 1042\u20131045 (1994).",
      "journal-title": "Science"
    },
    {
      "key": "BF377065a0_CR8",
      "doi-asserted-by": "publisher",
      "first-page": "1045",
      "DOI": "10.1126/science.7973659",
      "volume": "266",
      "author": "T Myazaki",
      "year": "1994",
      "unstructured": "Myazaki, T. et al. Science 266, 1045\u20131047 (1994).",
      "journal-title": "Science"
    },
    {
      "key": "BF377065a0_CR9",
      "doi-asserted-by": "publisher",
      "first-page": "1425",
      "DOI": "10.1084/jem.181.4.1425",
      "volume": "181",
      "author": "T Musso",
      "year": "1995",
      "unstructured": "Musso, T. et al. J. exp. Med. 181, 1425\u20131431 (1995).",
      "journal-title": "J. exp. Med."
    },
    {
      "key": "BF377065a0_CR10",
      "doi-asserted-by": "publisher",
      "first-page": "1415",
      "DOI": "10.1126/science.8197455",
      "volume": "264",
      "author": "JE Darnell",
      "year": "1994",
      "unstructured": "Darnell, J. E., Kerr, I. M. & Start, G. R. Science 264, 1415\u20131421 (1994).",
      "journal-title": "Science"
    },
    {
      "key": "BF377065a0_CR11",
      "doi-asserted-by": "publisher",
      "first-page": "69",
      "DOI": "10.1016/S0168-9525(00)89000-9",
      "volume": "11",
      "author": "JN Ihle",
      "year": "1995",
      "unstructured": "Ihle, J. N. & Kerr, I. M. Trends Genet. 11, 69\u201374 (1995).",
      "journal-title": "Trends Genet."
    },
    {
      "key": "BF377065a0_CR12",
      "doi-asserted-by": "publisher",
      "first-page": "223",
      "DOI": "10.1016/1074-7613(95)90047-0",
      "volume": "2",
      "author": "X Cao",
      "year": "1995",
      "unstructured": "Cao, X. et al. Immunity 2, 223\u2013238 (1995).",
      "journal-title": "Immunity"
    },
    {
      "key": "BF377065a0_CR13",
      "doi-asserted-by": "publisher",
      "first-page": "377",
      "DOI": "10.1073/pnas.92.2.377",
      "volume": "93",
      "author": "JP Di Santo",
      "year": "1995",
      "unstructured": "Di Santo, J. P., Muller, W., Guy-Grand, D., Fischer, A. & Rajewsky, K. Proc. natn. Acad. Sci. U.S.A. 93, 377\u2013381 (1995).",
      "journal-title": "Proc. natn. Acad. Sci. U.S.A."
    },
    {
      "key": "BF377065a0_CR14",
      "doi-asserted-by": "crossref",
      "first-page": "2873",
      "DOI": "10.4049/jimmunol.145.9.2873",
      "volume": "145",
      "author": "M-L Gougeon",
      "year": "1990",
      "unstructured": "Gougeon, M.-L. et al. J. Immun. 145, 2873\u20132877 (1990).",
      "journal-title": "J. Immun."
    },
    {
      "key": "BF377065a0_CR15",
      "doi-asserted-by": "crossref",
      "first-page": "700",
      "DOI": "10.4049/jimmunol.150.2.700",
      "volume": "150",
      "author": "GS Wengler",
      "year": "1993",
      "unstructured": "Wengler, G. S., Allen, R. C., Parolini, O., Smith, H. & Conley, M. E. J. Immun. 150, 700\u2013704 (1993).",
      "journal-title": "J. Immun."
    },
    {
      "key": "BF377065a0_CR16",
      "doi-asserted-by": "publisher",
      "first-page": "1395",
      "DOI": "10.1172/JCI112967",
      "volume": "79",
      "author": "JM Puck",
      "year": "1987",
      "unstructured": "Puck, J. M., Nussbaum, R. L. & Conley M. E. J. clin. Invest. 79, 1395\u20131400 (1987).",
      "journal-title": "J. clin. Invest."
    },
    {
      "key": "BF377065a0_CR17",
      "doi-asserted-by": "publisher",
      "first-page": "3090",
      "DOI": "10.1073/pnas.85.9.3090",
      "volume": "85",
      "author": "ME Conley",
      "year": "1988",
      "unstructured": "Conley, M. E. et al. Proc. natn. Acad. Sci. U.S.A. 85, 3090\u20133094 (1988).",
      "journal-title": "Proc. natn. Acad. Sci. U.S.A."
    },
    {
      "key": "BF377065a0_CR18",
      "doi-asserted-by": "publisher",
      "first-page": "156",
      "DOI": "10.1016/0003-2697(87)90021-2",
      "volume": "162",
      "author": "P Chomczynski",
      "year": "1987",
      "unstructured": "Chomczynski, P. & Sacchi, N. Analyt. Biochem. 162, 156\u2013159 (1987).",
      "journal-title": "Analyt. Biochem."
    },
    {
      "key": "BF377065a0_CR19",
      "doi-asserted-by": "publisher",
      "first-page": "414",
      "DOI": "10.1038/ng0495-414",
      "volume": "9",
      "author": "A Villa",
      "year": "1995",
      "unstructured": "Villa, A. et al. Nature Genet. 9, 414\u2013417 (1995).",
      "journal-title": "Nature Genet."
    }
  ],
  "container-title": "Nature",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "http://www.nature.com/articles/377065a0",
      "content-type": "text/html",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://www.nature.com/articles/377065a0.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://www.nature.com/articles/377065a0.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2023,
        5,
        17
      ]
    ],
    "date-time": "2023-05-17T03:04:49Z",
    "timestamp": 1684292689000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://www.nature.com/articles/377065a0"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        1995,
        9
      ]
    ]
  },
  "references-count": 19,
  "journal-issue": {
    "issue": "6544",
    "published-print": {
      "date-parts": [
        [
          1995,
          9
        ]
      ]
    }
  },
  "alternative-id": [
    "BF377065a0"
  ],
  "URL": "http://dx.doi.org/10.1038/377065a0",
  "relation": {},
  "ISSN": [
    "0028-0836",
    "1476-4687"
  ],
  "subject": [],
  "container-title-short": "Nature",
  "published": {
    "date-parts": [
      [
        1995,
        9
      ]
    ]
  }
}