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Related Experiment Video

Updated: Mar 26, 2026

Imaging InlC Secretion to Investigate Cellular Infection by the Bacterial Pathogen Listeria monocytogenes
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Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report.

Hidetoshi Takada1, Masataka Ishimura, Tomohito Takimoto

  • 1From the Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan (HT); Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan (MI, TT, TH); Department of Pediatrics, Naha City Hospital, Naha, Japan (TK); Department of Pediatrics, Nagaoka Rehabilitation and Medical Center for Children, Nagaoka, Japan (HY); Department of Hematology and Oncology, Miyagi Children's Hospital, Sendai, Japan (MI); Department of Pediatrics, Tokushima Red Cross Hospital, Komatsushima, Japan (KS); Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Shimajiri-gun, Japan (YS, TK); Center of Bone Marrow Transplantation, Hospital of University of the Ryukyu, Nakagami-gun, Japan (NH); Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Japan (OO); and Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan (SN).

Medicine
|January 31, 2016
PubMed
Summary
This summary is machine-generated.

Interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency causes severe invasive bacterial infections, especially pneumococcal meningitis, in infants. Early diagnosis and prophylactic antibiotics are crucial for managing this rare primary immunodeficiency.

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Area of Science:

  • Immunology
  • Genetics

Background:

  • Interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency is a rare primary immunodeficiency affecting innate immunity.
  • This condition predisposes individuals to severe bacterial infections.

Observation:

  • Ten patients from six Japanese families with IRAK4 deficiency were analyzed.
  • The majority (9/10) carried a homozygous c.123_124insA mutation.
  • Delayed umbilical cord separation was noted in affected infants.

Findings:

  • Eight patients experienced severe invasive bacterial infections before age three, with seven developing pneumococcal meningitis.
  • Five patients died from infections in infancy, despite prompt antibiotic treatment.
  • Cerebrospinal fluid analysis in fatal meningitis cases showed low glucose and mild pleocytosis.

Implications:

  • IRAK4 deficiency leads to rapidly progressive infections, often unresponsive to standard treatment.
  • Early diagnosis and prophylactic strategies are essential for improving outcomes.
  • Genetic analysis is key to identifying IRAK4 mutations and understanding disease mechanisms.