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Bare lymphocyte syndrome information


Bare lymphocyte syndrome
Bare lymphocyte syndrome is autosomal recessive in inheritance
SpecialtyHematology Edit this on Wikidata

Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and presentation of MHC molecules. It is a form of severe combined immunodeficiency.[1]

  1. ^ DeSandro AM, Nagarajan UM, Boss JM (September 2000). "Associations and interactions between bare lymphocyte syndrome factors". Mol. Cell. Biol. 20 (17): 6587–99. doi:10.1128/MCB.20.17.6587-6599.2000. PMC 86141. PMID 10938133.

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Bare lymphocyte syndrome

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Bare lymphocyte syndrome is a condition caused by mutations in certain genes of the major histocompatibility complex or involved with the processing and...

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Bare lymphocyte syndrome type II

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Bare lymphocyte syndrome type II (BLS II) is a rare recessive genetic condition in which a group of genes called major histocompatibility complex class...

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MHC class II

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HLA-DQ, and HLA-DR. Mutations in the HLA gene complex can lead to bare lymphocyte syndrome (BLS), which is a type of MHC class II deficiency. Like MHC class...

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List of syndromes

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Barakat-Perenthaler syndrome Bardet–Biedl syndrome Bare lymphocyte syndrome type II Bare lymphocyte syndrome Barlow's syndrome Barraquer–Simons syndrome Bart syndrome Barth...

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Severe combined immunodeficiency

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antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently...

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CIITA

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transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively...

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BLS

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crops Bare lymphocyte syndrome, a form of severe combined immunodeficiency Basic life support, an emergency medical protocol Blind loop syndrome, small...

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RFX5

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expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation...

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RFXAP

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II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing...

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Genetic studies on Arabs

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Bare lymphocyte syndrome high in western Arabic block Morocco, type II limb-girdle muscular dystrophy, type 2C in Libya, hemolytic-uremic syndrome in...

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List of skin conditions

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dysfunction. Bare lymphocyte syndrome Chronic granulomatous disease (Bridges–Good syndrome, chronic granulomatous disorder, Quie syndrome) Common variable...

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RFXANK

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protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding...

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List of OMIM disorder codes

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Bardet–Biedl syndrome 9; 209900; PTHB1 Bare lymphocyte syndrome, type I; 604571; TAP1 Bare lymphocyte syndrome, type I; 604571; TAPBP Bare lymphocyte syndrome, type...

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Outline of immunology

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(CD353) SLAMF9 Cadherins Selectins E-selectin L-selectin P-selectin Others Lymphocyte homing receptors CD34 GLYCAM-1 Addressin (MAdCAM-1) CD44 Carcinoembryonic...

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Diffuse panbronchiolitis

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DPB-susceptibility region have been investigated. One of these, bare lymphocyte syndrome I (BLS I), exhibits a number of similarities with DPB in those...

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List of human clusters of differentiation

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PMID 26179200. https://www.regeneron.com/sites/default/files/Dupixent_FPI.pdf[bare URL PDF] http://www.pieris.com/pipeline/respiratory-anemia-and-other-dis...

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TAF6

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Strominger JL (1997). "Transactivation by CIITA, the type II bare lymphocyte syndrome-associated factor, requires participation of multiple regions of...

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Leukemia

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on to form lymphocytes, which are infection-fighting immune system cells. Most lymphocytic leukemias involve a specific subtype of lymphocyte, the B cell...

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Liver

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space, between a sinusoid and a hepatocyte. Additionally, intrahepatic lymphocytes are often present in the sinusoidal lumen. Microscopic anatomy of the...

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Developmental bioelectricity

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PMID 15371524. Lin, F.; Baldessari, F.; Gyenge, C. C.; et al. (2008). "Lymphocyte Electrotaxis in Vitro and in Vivo". The Journal of Immunology. 181 (4):...

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FADD

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zebrafish. FADD is thought to have a role in regulating the cell cycle of T lymphocytes. This regulation is dependent on phosphorylation of FADD on Serine 194...

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Marcello Siniscalco

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Sardinia, analyzing the genes responsible for thalassemia and G6PD deficiency syndrome, among others. Siniscalco also played an important role in the development...

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