A novel X-linked combined immunodeficiency disease

Edward G. Brooks, Frank C. Schmalstieg, Daniel P. Wirt, Howard M. Rosenblatt, Linda T. Adkins, Donald P. Lookingbill, Helen E. Rudloff, Tamara A. Rakusan, Armond S. Goldman

Research output: Contribution to journalArticlepeer-review

79 Scopus citations


A novel X-linked combined immunodeficiency disease was found in five living males in an extended family in the United States. The age of the affected males ranged from 2.5 to 34 yr. The most prominent clinical abnormalities were a paucity of lymphoid tissue; recurrent sinusitis, otitis media, bronchitis, and pneumonia; severe varicella; and chronic papillomavirus infections. The principal immunologic features of the disorder were normal concentrations of serum immunoglobulins but restricted formation of IgG antibodies to immunogens; normal numbers of B cells and NK cells but decreased numbers of CD4+ and CD8+ T lymphocytes, particularly the CD45RA+ subpopulations; diminished proliferative responses of blood T cells to allogeneic cells, mitogens and antigens; and decreased production of IL-2 by mitogen stimulated blood lymphocytes. Thus, affected males in this family carry an abnormal gene on their X chromosome that results in a combined immunodeficiency that is distinct from previously reported disorders.

Original languageEnglish (US)
Pages (from-to)1623-1631
Number of pages9
JournalJournal of Clinical Investigation
Issue number5
StatePublished - Nov 1990
Externally publishedYes


  • Helper T cells
  • IgG antibodies
  • Memory T cells (CD45RO)
  • Suppressor T cells
  • Virgin T cells (CD45RA)

ASJC Scopus subject areas

  • General Medicine


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