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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2006-5-1
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pubmed:abstractText |
We report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.
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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 |
Apr
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pubmed:issn |
0022-3476
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pubmed:author |
pubmed-author:BordesAnaA,
pubmed-author:CardenesMaríaM,
pubmed-author:CasanovaJean-LaurentJL,
pubmed-author:ColinoElenaE,
pubmed-author:EmileJean-FrançoisJF,
pubmed-author:García-SaavedraAyozeA,
pubmed-author:GarfiaAntonioA,
pubmed-author:KuCheng-LungCL,
pubmed-author:PicardCapucineC,
pubmed-author:PuelAnneA,
pubmed-author:Rodríguez-GallegoCarlosC,
pubmed-author:SantiagoEstherE,
pubmed-author:von BernuthHorstH
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pubmed:issnType |
Print
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pubmed:volume |
148
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
549-51
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16647422-Child,
pubmed-meshheading:16647422-Child, Preschool,
pubmed-meshheading:16647422-Family Health,
pubmed-meshheading:16647422-Genes, Recessive,
pubmed-meshheading:16647422-Humans,
pubmed-meshheading:16647422-Immunologic Deficiency Syndromes,
pubmed-meshheading:16647422-Infant,
pubmed-meshheading:16647422-Interleukin-1 Receptor-Associated Kinases,
pubmed-meshheading:16647422-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:16647422-Pedigree,
pubmed-meshheading:16647422-Pneumococcal Infections,
pubmed-meshheading:16647422-Protein-Serine-Threonine Kinases,
pubmed-meshheading:16647422-Recurrence,
pubmed-meshheading:16647422-Spain,
pubmed-meshheading:16647422-Staphylococcal Infections
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pubmed:year |
2006
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pubmed:articleTitle |
Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.
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pubmed:affiliation |
Department of Immunology and Microbiology, Gran Canaria Dr. Negrín University Hospital, Seville, Spain.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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