Concepedia

Jak3 Deficiency

JAK3 Deficiency is a genetic disorder characterized by autosomal recessive mutations in the *JAK3* gene, leading to defective cytokine signaling and impaired lymphocyte development, resulting in severe combined immunodeficiency (SCID).

130

Publications

13.5K

Citations

1.2K

Authors

431

Institutions

Publications per year

2017–2026

26

Variants

Jak3-deficient ScidJak3-scid

Parents

Publications

130

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

Yoshiyuki Minegishi, Masako Saitō, Shigeru Tsuchiya et al. · Nature · 2007 · 1K citations

, , +13

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

Paolo Macchi, Anna Villa, Silvia Giliani et al. · Nature · 1995 · 885 citations

, , +13

Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development

Sarah M. Russell, Nahid Tayebi, Hiroshi Nakajima et al. · Science · 1995 · 814 citations · Full text

, , +17

Interaction of IL-2Rβ and γ <sub>c</sub> Chains with Jak1 and Jak3: Implications for XSCID and XCID

Sarah M. Russell, James A. Johnston, Masayuki Noguchi et al. · Science · 1994 · 656 citations

, , +17

Defective Lymphoid Development in Mice Lacking Jak3

Tetsuya Nosaka, Jan M. A. van Deursen, Ralph A. Tripp et al. · Science · 1995 · 649 citations

, , +15

1–5 of 130

Authors

1.2K

  1. FC
    Fabio Candotti

    National Human Genome Research Institute, United States

    15 publications · 1.8K citations

    14

    h-index

  2. JJ
    John J. O’Shea

    National Institute of Arthritis and Musculoskeletal and Skin Diseases, United States

    13 publications · 2.7K citations

    13

    h-index

  3. JN
    James N. Ihle

    St. Jude Children's Research Hospital, United States

    8 publications · 1.7K citations

    8

    h-index

  4. LD
    Luigi D. Notarangelo

    National Institute of Allergy and Infectious Diseases, United States

    8 publications · 1.5K citations

    8

    h-index

  5. PM
    Patrizia Mella

    University of Brescia, Italy

    7 publications · 365 citations

    7

    h-index

1–5 of 1.2K

Institutions

431

  1. National Institutes of Health

    Bethesda, United States

    17 h-index

    66 publications

    10.5K citations

  2. University of Brescia

    Brescia, Italy

    13 h-index

    63 publications

    7.8K citations

  3. National Institute of Arthritis and Musculoskeletal and Skin Diseases

    Bethesda, United States

    12 h-index

    62 publications

    10.4K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    12 h-index

    38 publications

    4.5K citations

  5. National Human Genome Research Institute

    Bethesda, United States

    11 h-index

    45 publications

    4.8K citations

  6. Harvard University

    Cambridge, United States

    11 h-index

    39 publications

    4.1K citations

  7. Inserm

    Paris, France

    10 h-index

    57 publications

    5.3K citations

  8. St. Jude Children's Research Hospital

    Memphis, United States

    10 h-index

    42 publications

    9.2K citations

1–8 of 431

Venues

  1. Blood

    18 publications · 1.7K citations

    18

    h-index

  2. The Journal of Immunology

    JI · 8 publications · 250 citations

    8

    h-index

  3. Journal of Clinical Immunology

    7 publications · 239 citations

    7

    h-index

  4. Journal of Biological Chemistry

    JBC · 6 publications · 276 citations

    6

    h-index

  5. Leukemia

    5 publications · 260 citations

    5

    h-index

1–5