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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2011-5-31
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pubmed:abstractText |
Heterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI), have been associated with the development of common variable immunodeficiency. Smith-Magenis syndrome (SMS) is a genetic disorder characterized by developmental delay, behavioral disturbances, craniofacial anomalies, and recurrent respiratory tract infections. Eighty percent of subjects have a chromosome 17p11.2 microdeletion, which includes TACI. The remaining subjects have mutations sparing this gene.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1097-6825
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pubmed:author |
pubmed-author:CeruttiAndreaA,
pubmed-author:ChinenJavierJ,
pubmed-author:ColsMontserratM,
pubmed-author:Cunningham-RundlesCharlotteC,
pubmed-author:GuWenliW,
pubmed-author:LupskiJames RJR,
pubmed-author:Martinez-GalloMonicaM,
pubmed-author:PotockiLorraineL,
pubmed-author:RadiganLinL,
pubmed-author:WithersMarjorieM,
pubmed-author:ZhangLiL
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pubmed:copyrightInfo |
Copyright © 2011 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
127
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1579-86
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pubmed:meshHeading |
pubmed-meshheading:21514638-Adolescent,
pubmed-meshheading:21514638-Adult,
pubmed-meshheading:21514638-B-Lymphocytes,
pubmed-meshheading:21514638-Base Sequence,
pubmed-meshheading:21514638-Child,
pubmed-meshheading:21514638-Child, Preschool,
pubmed-meshheading:21514638-Chromosome Deletion,
pubmed-meshheading:21514638-Chromosomes, Human, Pair 17,
pubmed-meshheading:21514638-Cohort Studies,
pubmed-meshheading:21514638-Cytidine Deaminase,
pubmed-meshheading:21514638-Female,
pubmed-meshheading:21514638-Haploinsufficiency,
pubmed-meshheading:21514638-Humans,
pubmed-meshheading:21514638-Immunity, Humoral,
pubmed-meshheading:21514638-Infant,
pubmed-meshheading:21514638-Male,
pubmed-meshheading:21514638-Mutation,
pubmed-meshheading:21514638-RNA, Messenger,
pubmed-meshheading:21514638-Smith-Magenis Syndrome,
pubmed-meshheading:21514638-Toll-Like Receptor 9,
pubmed-meshheading:21514638-Transmembrane Activator and CAML Interactor Protein,
pubmed-meshheading:21514638-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
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pubmed:affiliation |
Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Extramural
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