Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency

Pediatr Infect Dis J. 2013 Sep;32(9):1017-9. doi: 10.1097/INF.0b013e318292bf8c.


A 9-month-old infant presented with fatal pneumococcal sepsis and attenuated inflammation indices. Even in septic conditions, flow cytometry-based CD62L shedding test on granulocytes proved to be a fast and reliable diagnostic tool for the detection of a defect in the innate immunity. Confirmatory immunologic and genetic assays identified an autosomal-recessive interleukin-1 receptor-associated kinase-4 deficiency due to compound heterozygous mutations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Flow Cytometry
  • Granulocytes / immunology*
  • Humans
  • Immunologic Deficiency Syndromes / congenital*
  • Immunologic Deficiency Syndromes / diagnosis*
  • Infant
  • Interleukin-1 Receptor-Associated Kinases / deficiency*
  • L-Selectin / metabolism*
  • Pneumococcal Infections / immunology*
  • Sepsis / immunology*


  • L-Selectin
  • Interleukin-1 Receptor-Associated Kinases