X-linked lymphoproliferative disease

Twenty-five years after the discovery

T. A. Seemayer, T. G. Gross, R. M. Egeler, Samuel Jay Pirruccello, J. R. Davis, C. M. Kelly, M. Okano, A. Lanyi, J. Sumegi

Research output: Contribution to journalArticle

238 Citations (Scopus)

Abstract

The X-linked lymphoproliferative disease (XLP), one of six described X-linked immunodeficiencies, stems from a mutation at Xq25 which renders males impotent to mount an effective immune response to the ubiquitous EBV. Purtilo, who first observed this disease in 1969, established a Registry in 1980 to serve as a worldwide resource for the diagnosis, treatment, and research of this condition. Since Purtilo's death in late 1992, the Registry and research unit have not only continued to function as a worldwide consultative service, but have contributed the following. First, the number of affected boys has continued to grow; some 272 among 80 kindreds have been identified. Second, some boys (10%) who inherit the mutated XLP gene are immunologically abnormal even before evidence of EBV exposure. Third, the search for the XLP gene has been narrowed to a small region on Xq25. Its identification is near at hand; once cloned, this gene may well illustrate how the body orchestrates the complex immune response to EBV. Therein lies the justification for the quest for this gene, not only for the benefit of the few surviving boys and those to be born to female carriers, but also for defining its role in defending the body against a ubiquitous DNA virus.

Original languageEnglish (US)
Pages (from-to)471-478
Number of pages8
JournalPediatric Research
Volume38
Issue number4
DOIs
StatePublished - Jan 1 1995

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Lymphoproliferative Disorders
Human Herpesvirus 4
Genes
Registries
DNA Viruses
Antigen-Antibody Complex
Research
Hand
Mutation
Therapeutics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Seemayer, T. A., Gross, T. G., Egeler, R. M., Pirruccello, S. J., Davis, J. R., Kelly, C. M., ... Sumegi, J. (1995). X-linked lymphoproliferative disease: Twenty-five years after the discovery. Pediatric Research, 38(4), 471-478. https://doi.org/10.1203/00006450-199510000-00001

X-linked lymphoproliferative disease : Twenty-five years after the discovery. / Seemayer, T. A.; Gross, T. G.; Egeler, R. M.; Pirruccello, Samuel Jay; Davis, J. R.; Kelly, C. M.; Okano, M.; Lanyi, A.; Sumegi, J.

In: Pediatric Research, Vol. 38, No. 4, 01.01.1995, p. 471-478.

Research output: Contribution to journalArticle

Seemayer, TA, Gross, TG, Egeler, RM, Pirruccello, SJ, Davis, JR, Kelly, CM, Okano, M, Lanyi, A & Sumegi, J 1995, 'X-linked lymphoproliferative disease: Twenty-five years after the discovery', Pediatric Research, vol. 38, no. 4, pp. 471-478. https://doi.org/10.1203/00006450-199510000-00001
Seemayer, T. A. ; Gross, T. G. ; Egeler, R. M. ; Pirruccello, Samuel Jay ; Davis, J. R. ; Kelly, C. M. ; Okano, M. ; Lanyi, A. ; Sumegi, J. / X-linked lymphoproliferative disease : Twenty-five years after the discovery. In: Pediatric Research. 1995 ; Vol. 38, No. 4. pp. 471-478.
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