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Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect

  1. Author:
    Lisco, Andrea
    Ye, Peying
    Wong, Chun-Shu
    Pei, Luxin
    Hsu, Amy P.
    Mace, Emily M.
    Orange, Jordan S.
    Lage, Silvia Lucena
    Ward, Addison Jon
    Migueles, Stephen A.
    Connors, Mark
    Anderson, Megan
    Buckner, Clarisa M.
    Moir, Susan
    Rupert,Adam
    Dulau-Florea, Alina
    Ogbogu, Princess
    Timberlake, Dylan
    Notarangelo, Luigi D.
    Pittaluga, Stefania
    Abraham, Roshini S.
    Sereti, Irini

  2. Author Address

    NIAID, NIH, 10 Ctr Dr,Bldg 10,Room 6D44G, Bethesda, MD 20892 USA.Columbia Univ, Vagelos Coll Phys & Surg, New York, NY USA.Leidos Biomed Res Inc, Frederick, MD USA.NIH, Ctr Clin, Bethesda, MD 20892 USA.Ohio State Univ, Wexner Med Ctr, Columbus, OH 43210 USA.NCI, NIH, Bethesda, MD 20892 USA.Nationwide Childrens Hosp, Columbus, OH USA.
    1. Year: 2021
    2. Date: Feb 24
  2. Journal: Journal of Infectious Diseases
  3. Oxford Univ Press
    1. 223
    2. 4
    3. Pages: 645-654
  5. Type of Article: Article
  6. ISSN: 0022-1899
  1. Abstract:

    CD4 expression identifies a subset of mature T cells primarily assisting the germinal center reaction and contributing to CD8(+) T-cell and B-cell activation, functions, and longevity. Herein, we present a family in which a novel variant disrupting the translation-initiation codon of the CD4 gene resulted in complete loss of membrane and plasma soluble CD4 in peripheral blood, lymph node, bone marrow, skin, and ileum of a homozygous proband. This inherited CD4 knockout disease illustrates the clinical and immunological features of a complete deficiency of any functional component of CD4 and its similarities and differences with other clinical models of primary or acquired loss of CD4(+) T cells.

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External Sources

  1. View Full Text
  2. DOI: 10.1093/infdis/jiab025
  3. PMID: 33471124
  4. PMCID: PMC7904290
  5. View record in Web of Science®
  6. WOS: 000648914400013

Library Notes

  1. Fiscal Year: FY2020-2021
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