Concepedia

Il2rg Deficiency

IL2RG Deficiency is a monogenic primary immunodeficiency disorder characterized by mutations in the IL2RG gene, which encodes the common gamma chain (γc) shared by multiple cytokine receptors, leading to defective lymphocyte signaling and development, particularly in T and natural killer cells, and resulting in severe combined immunodeficiency (SCID).

161

Publications

13.1K

Citations

1.2K

Authors

433

Institutions

Publications per year

2017–2026

31

Variants

X-linked Severe Combined ImmunodeficiencyX-scid

Parents

Publications

161

Development of functional human blood and immune systems in NOD/SCID/IL2 receptor γ chainnull mice

Fumihiko Ishikawa, Masaki Yasukawa, Bonnie Lyons et al. · Blood · 2005 · 920 citations · Full text

, , +15

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Francisco A. Bonilla, Helen Chapel, Beatriz Tavares Costa‐Carvalho et al. · The Journal of Allergy and Clinical Immunology In Practice · 2015 · 858 citations · Full text

, , +14

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Benjamin Gathmann, Nizar Mahlaoui, Laurence Gérard et al. · Journal of Allergy and Clinical Immunology · 2014 · 634 citations

, , +13

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Bertrand Boisson, Emmanuel Laplantine, Carolina Prando et al. · Nature Immunology · 2012 · 474 citations · Full text

, , +13

The Acquired Immunodeficiency Syndrome

Michael S. Gottlieb · Annals of Internal Medicine · 1983 · 473 citations

, , +7

1–5 of 161

Authors

1.2K

  1. JM
    Jennifer M. Puck

    University of California, San Francisco, United States

    12 publications · 1.1K citations

    12

    h-index

  2. CC
    Charlotte Cunningham‐Rundles

    Icahn School of Medicine at Mount Sinai, United States

    5 publications · 1.3K citations

    5

    h-index

  3. GD
    Geneviève de Saint Basile

    Inserm, France

    5 publications · 517 citations

    5

    h-index

  4. CM
    Chaim M. Roifman

    Hospital for Sick Children, Canada

    5 publications · 518 citations

    5

    h-index

  5. HK
    Hirokazu Kanegane

    Tokyo Medical and Dental University, Japan

    4 publications · 100 citations

    4

    h-index

1–5 of 1.2K

Institutions

433

  1. National Institutes of Health

    Bethesda, United States

    16 h-index

    85 publications

    5.6K citations

  2. National Human Genome Research Institute

    Bethesda, United States

    10 h-index

    41 publications

    3.1K citations

  3. Inserm

    Paris, France

    8 h-index

    30 publications

    4.3K citations

  4. National Institute of Allergy and Infectious Diseases

    Bethesda, United States

    8 h-index

    52 publications

    2.4K citations

  5. Harvard University

    Cambridge, United States

    8 h-index

    19 publications

    3K citations

  6. University of Pennsylvania

    Philadelphia, United States

    7 h-index

    24 publications

    2.5K citations

  7. Tokyo Medical and Dental University

    Tokyo, Japan

    7 h-index

    31 publications

    903 citations

  8. University of California, San Francisco

    San Francisco, United States

    7 h-index

    18 publications

    1.3K citations

1–8 of 433

Venues

  1. Journal of Clinical Immunology

    10 publications · 590 citations

    10

    h-index

  2. PubMed

    Repository · 9 publications · 556 citations

    9

    h-index

  3. Journal of Allergy and Clinical Immunology

    9 publications · 1.6K citations

    9

    h-index

  4. Blood

    8 publications · 1.7K citations

    8

    h-index

  5. The Journal of Immunology

    JI · 6 publications · 282 citations

    6

    h-index

1–5