{"id":47791,"date":"1998-10-01T00:00:00","date_gmt":"1998-10-01T05:00:00","guid":{"rendered":"https:\/\/www.unmc.edu\/newsroom\/1998\/10\/01\/unmc-researchers-identify-gene-causing-rare-fatalimmunological-problem-in-males\/"},"modified":"2022-08-29T11:00:00","modified_gmt":"2022-08-29T16:00:00","slug":"unmc-researchers-identify-gene-causing-rare-fatalimmunological-problem-in-males","status":"publish","type":"post","link":"https:\/\/www.unmc.edu\/newsroom\/1998\/10\/01\/unmc-researchers-identify-gene-causing-rare-fatalimmunological-problem-in-males\/","title":{"rendered":"UNMC Researchers Identify Gene Causing Rare Fatal\n\nImmunological Problem in Males"},"content":{"rendered":"

<\/FONT><\/B><\/p>\n

 An international team of scientists, including several University<\/p>\n

of Nebraska Medical Center researchers, has identified the gene involved<\/p>\n

in X-linked lymphoproliferative syndrome (XLP). The disorder, also known<\/p>\n

as Duncan’s disease, is marked by an extreme vulnerability to the Epstein-Barr<\/p>\n

virus (EBV), a member of the herpes virus group that infects the majority<\/p>\n

of individuals by adulthood.<\/p>\n

 The discovery, which is reported in the Oct. 1 edition of Nature<\/p>\n

Genetics, is significant, as it will allow males at risk for XLP to be<\/p>\n

diagnosed earlier, so that therapy can be given before it is too late.<\/p>\n

In addition, it will permit the direct diagnosis of XLP in families with<\/p>\n

a single affected male.<\/p>\n

 The team of scientists was headed locally by two professors in<\/p>\n

the UNMC Department of Pathology and Microbiology — Janos Sumegi, M.D.,<\/p>\n

Ph.D., and Thomas A. Seemayer, M.D. It included researchers from Boston<\/p>\n

University School of Medicine as well as researchers from laboratories<\/p>\n

in France, Germany, Great Britain and Italy.<\/p>\n

 XLP was first observed in 1969 by the late David T. Purtilo, M.D.,<\/p>\n

former professor and chairman of pathology and microbiology at UNMC who<\/p>\n

died in 1992. Males with XLP inherit a mutant gene in the X chromosome,<\/p>\n

leaving them incapable of withstanding EBV. This immune deficiency passes<\/p>\n

from unaffected women who are carriers to some of their male children.<\/p>\n

 By the time they are adults, more than 90 percent of Americans<\/p>\n

are silently infected with EBV, a virus more common than chicken pox. However,<\/p>\n

most infected people develop antibodies to fight the infection and have<\/p>\n

little more than a sore throat or a slight fever.<\/p>\n

 Today, more than 88 unrelated families and 297 males are registered<\/p>\n

in the XLP Registry at UNMC. Dr. Purtilo established the registry in 1978<\/p>\n

to provide a central facility for coordinating research and serving as<\/p>\n

a resource for diagnostic and therapeutic strategies. Dr. Seemayer is now<\/p>\n

in charge of maintaining the XLP Registry.<\/p>\n

 Although XLP is a rare disorder occurring only as a genetic accident<\/p>\n

with a frequency of one in every 1 million live births, it currently is<\/p>\n

believed to be under diagnosed, Dr. Sumegi said.<\/p>\n

 After becoming infected with EBV, males born with XLP succumb<\/p>\n

to either one or a combination of four diseases — mononucleosis, aplastic<\/p>\n

anemia (bone marrow failure), lymphoma or hypogammaglobulinemia (the inability<\/p>\n

to produce antibodies). About 75 percent of males with XLP die by age 10.<\/p>\n

No one has lived past age 44.<\/p>\n

 Previous genetic, cytogenetic and physical mapping studies conducted<\/p>\n

at UNMC and Boston University School of Medicine narrowed the search for<\/p>\n

the XLP gene to a small region on the X chromosome, said Dr. Sumegi, who<\/p>\n

spearheaded this work at UNMC. A variety of techniques, including DNA sequencing<\/p>\n

and computer-based analysis, was used to isolate the gene, known as SH2D1A.<\/p>\n

 Presently, the only curative therapy for XLP is allogenic stem<\/p>\n

cell transplantation. Age at the time of transplant appears to be critical,<\/p>\n

Dr. Seemayer said. Of 13 boys transplanted, nine are alive and well without<\/p>\n

recurrent disease, and all were under 15 years of age at the time of the<\/p>\n

transplant. The four non-survivors were all over 15 years of age when they<\/p>\n

were transplanted.<\/p>\n

 UNMC is the only public academic health science center in the<\/p>\n

state. Through its commitment to research, education and patient care,<\/p>\n

UNMC has established itself as one of the country’s leading centers for<\/p>\n

cancer research and treatment and solid organ transplantation. More than<\/p>\n

$34 million in research grants and contracts are awarded to UNMC scientists<\/p>\n

annually. In addition, UNMC’s educational programs are responsible for<\/p>\n

training more health professionals practicing in Nebraska than any other<\/p>\n

institution.<\/p>\n


 <\/p>\n


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 An international team of scientists, including several University of Nebraska Medical Center researchers, has identified the gene involved in X-linked lymphoproliferative syndrome (XLP). The disorder, also known as Duncan’s disease, is marked by an extreme vulnerability to the Epstein-Barr virus (EBV), a member of the herpes virus group that infects the majority of individuals by […]<\/p>\n","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-47791","post","type-post","status-publish","format-standard","hentry","category-uncategorized","department-press-release"],"yoast_head":"\nUNMC Researchers Identify Gene Causing Rare 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