A novel X-linked combined immunodeficiency disease.

EG Brooks, FC Schmalstieg, DP Wirt… - The Journal of …, 1990 - Am Soc Clin Investig
EG Brooks, FC Schmalstieg, DP Wirt, HM Rosenblatt, LT Adkins, DP Lookingbill, HE Rudloff…
The Journal of clinical investigation, 1990Am Soc Clin Investig
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 …
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.
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The Journal of Clinical Investigation