Rare blood disease XLP

By Steve Benowitz
Special to NHGRI
(Left-right): Jennifer Cannons, Roseanne Zhao (lead author), Pam Schwartzberg

A rare, genetic disease found only in boys is helping researchers at the National Human Genome Research Institute (NHGRI) unlock secrets about how the body fends off infection. Studying a mouse model of an inherited disease called X-linked lymphoproliferative syndrome (XLP), they have discovered new details explaining how a missing protein can disrupt communication between two important types of white blood cells, T and B cells, which play key roles in immunity.

The findings also help explain why in some patients with XLP, miscommunication between T and B cells can be deadly, turning it into an often fatal immune disorder triggered by infection with an otherwise non-lethal, common virus, Epstein-Barr virus (EBV). The findings, Positive and Negative Signaling through SLAM Receptors Regulate Synapse Organization and Thresholds of Cytolysis, were reported in the June 7 online version of the journal Immunity.

XLP affects about one in a million boys. About half of these children experience a severe immune response to infection with EBV, resulting in symptoms that can include fever, hepatitis, an enlarged spleen, abnormally low numbers of antibodies, and, in some cases, lymphoma and other blood disorders. EBV infects B cells, and normally, the body clears such infections, but individuals with XLP are unable to kill these EBV-infected cells.

You might also like
Cavan In Hospital Fighting rare diseases XLP and EBVHLH
Cavan In Hospital Fighting rare diseases XLP and EBVHLH
Blood drive for woman with rare disease
Blood drive for woman with rare disease
5-year-old Girl With Rare Disease Undergoes 20 Blood
5-year-old Girl With Rare Disease Undergoes 20 Blood ...

Dragsbaek: 5 public health threats scarier than Ebola  — Longview News-Journal
Children died not from a rare infectious disease but from a vaccine-preventable disease that we didn't protect them from. 2. Pertussis: In 2013, Texas reported 3,985 cases of pertussis, or whooping cough — more than any other state in the U.S.

Man with rare blood disease documents his recovery
Man with rare blood disease documents his recovery
Milford boy fighting rare blood disease
Milford boy fighting rare blood disease
Claremore city councilor battles rare blood disease
Claremore city councilor battles rare blood disease

Popular Q&A

avatar
How can changes in blood pressure cause a stroke?

High blood pressure can lead to heart failure. If the heart isn't pumping properly than the chance of forming a clot increases and if this clot breaks free and makes it to the head than a stroke will occur

Related Posts