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1.
J Pediatr ; 145(5): 698-700, 2004 Nov.
Article in English | MEDLINE | ID: mdl-15520784

ABSTRACT

We describe two siblings with one confirmed and one inferred homozygous base pair deletion in the gene for interleukin-1-related kinase 4 (IRAK-4) who died of pneumococcal meningitis at 2 and 14 months, respectively. Interleukin-1-related kinase 4 deficiency is a potentially lethal immunodeficiency characterized by a poor inflammatory response to pyogenic infections.


Subject(s)
Meningitis, Pneumococcal/genetics , Mutation , Phosphotransferases (Alcohol Group Acceptor)/genetics , Fatal Outcome , Female , Humans , Immune Tolerance/genetics , Infant , Interleukin-1 Receptor-Associated Kinases , Male , Meningitis, Pneumococcal/immunology , Pedigree , Phosphotransferases (Alcohol Group Acceptor)/immunology , Siblings
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