About: BENTA disease

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BENTA disease is a rare genetic disorder of the immune system. BENTA stands for "B cell expansion with NF-κB and T cell anergy" and is caused by germline heterozygous gain-of-function mutations in the gene CARD11 (see OMIM entry #607210). This disorder is characterized by polyclonal B cell lymphocytosis with onset in infancy, splenomegaly, lymphadenopathy, mild immunodeficiency, and increased risk of lymphoma. Investigators Andrew L. Snow and Michael J. Lenardo at the National Institute of Allergy and Infectious Diseases at the U.S. National Institutes of Health first characterized BENTA disease in 2012. Dr. Snow's current laboratory at the Uniformed Services University of the Health Sciences is now actively studying this disorder.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	BENTA disease (en)
rdfs:comment	BENTA disease is a rare genetic disorder of the immune system. BENTA stands for "B cell expansion with NF-κB and T cell anergy" and is caused by germline heterozygous gain-of-function mutations in the gene CARD11 (see OMIM entry #607210). This disorder is characterized by polyclonal B cell lymphocytosis with onset in infancy, splenomegaly, lymphadenopathy, mild immunodeficiency, and increased risk of lymphoma. Investigators Andrew L. Snow and Michael J. Lenardo at the National Institute of Allergy and Infectious Diseases at the U.S. National Institutes of Health first characterized BENTA disease in 2012. Dr. Snow's current laboratory at the Uniformed Services University of the Health Sciences is now actively studying this disorder. (en)
foaf:name	BENTA Disease (en)
name	BENTA Disease (en)
foaf:depiction
dct:subject	Autoimmune diseases Rare diseases
Wikipage page ID	43741187 (xsd:integer)
Wikipage revision ID	1113495847 (xsd:integer)
Link from a Wikipage to another Wikipage	B-cell chronic lymphocytic leukemia Mutation Anergic Anergy Rituximab Uniformed Services University of the Health Sciences Vaccines In vitro Measles Genetic disorder Mutations NF-κB Epstein–Barr virus Sex-determination system Leukemia Lymphocytes Lymphoma Malignancy Autoimmune diseases Alleles Exons Germline Rare diseases Heterozygous B cell IgM Dominance (genetics) Autosome BK virus CARD11 Somatic (biology) Splenectomy Splenomegaly DLBCL National Institute of Allergy and Infectious Diseases Scaffold protein Serum (blood) Immune system Immunodeficiency Immunoglobulin class switching Lymphadenopathy Lymphocytosis Lymphoid leukemia Lymphopoiesis Transitional B cell Molluscum contagiosum T cell Severe combined immunodeficiency Peripheral blood mononuclear cell Sex linkage B-cell malignancies Varicella zoster Polyclonal Immunosuppressive
Link from a Wikipage to an external page	http://omim.org/entry/607210 http://www.merriam-webster.com/medical/sinopulmonary https://web.archive.org/web/20141105042346/http:/www.usuhs.edu/faculty/andrewsnow-pha.html http://www.omim.org/entry/615206
sameAs	BENTA disease BENTA disease BENTA disease
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Orphan dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/Autosomal_Dominant_Inheritance.jpeg?width=300
OMIM	616452 (xsd:integer)
Orphanet	464336 (xsd:integer)
caption	For each child an affected parent has, there is a 50% chance of passing on the mutation, regardless of the sex of the child autosomal dominant (en)
field	immunology (en)
synonyms	B-cell expansion with NF-kB and T-cell anergy disease (en)
has abstract	BENTA disease is a rare genetic disorder of the immune system. BENTA stands for "B cell expansion with NF-κB and T cell anergy" and is caused by germline heterozygous gain-of-function mutations in the gene CARD11 (see OMIM entry #607210). This disorder is characterized by polyclonal B cell lymphocytosis with onset in infancy, splenomegaly, lymphadenopathy, mild immunodeficiency, and increased risk of lymphoma. Investigators Andrew L. Snow and Michael J. Lenardo at the National Institute of Allergy and Infectious Diseases at the U.S. National Institutes of Health first characterized BENTA disease in 2012. Dr. Snow's current laboratory at the Uniformed Services University of the Health Sciences is now actively studying this disorder. (en)
gold:hypernym	Disorder
prov:wasDerivedFrom	wikipedia-en:BENTA_disease?oldid=1113495847&ns=0
page length (characters) of wiki page	11118 (xsd:nonNegativeInteger)
OMIM id	616452 (xsd:integer)
ORPHA	464336
foaf:isPrimaryTopicOf	wikipedia-en:BENTA_disease
is Link from a Wikipage to another Wikipage of	Lymphocytosis
is foaf:primaryTopic of	wikipedia-en:BENTA_disease

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