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PMID: 2243135 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

A novel X-linked combined immunodeficiency disease.

The Journal of clinical investigation ·Vol. 86 ·No. 5 ·1990-11-00 ·Pages 1623-31

Brooks EG, Schmalstieg FC, Wirt DP, Rosenblatt HM, Adkins LT, Lookingbill DP, Rudloff HE, Rakusan TA, Goldman AS

Abstract

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.

MeSH Terms
Adolescent Adult Child Child, Preschool Female Genetic Linkage Humans Immunoglobulins/analysis Immunologic Deficiency Syndromes/genetics,immunology Leukocyte Count Male Pedigree Phenotype T-Lymphocytes X Chromosome
Chemicals
Immunoglobulins
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Brooks E G
Department of Pediatrics, University of Texas Medical Branch, Galveston 77550.
Schmalstieg F C
Wirt D P
Rosenblatt H M
Adkins L T
Lookingbill D P
Rudloff H E
Rakusan T A
Goldman A S
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI114884
Published
1990-11-00
Pages
1623-31
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC296912
Subset
IM
External Links
PubMed source DOI: 10.1172/JCI114884 PMC Full Text View journal details
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